Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GNB4	59345	broad.mit.edu	37	3	179131545	179131545	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:179131545A>G	ENST00000232564.3	-	7	741	c.455T>C	c.(454-456)tTa>tCa	p.L152S	GNB4_ENST00000468623.1_Missense_Mutation_p.L152S	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	152					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCTGTCATCTAAAAAACGACA	0.378000													7	21					0	0	0.003080	0	0
AGBL5	60509	broad.mit.edu	37	2	27279611	27279611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27279611G>A	ENST00000360131.4	+	8	1645	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	AGBL5_ENST00000323064.8_Missense_Mutation_p.E496K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	496					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTCTAAAGAGGGAAGCGG	0.468000													74	88					0	0	0.003610	0	0
NSD1	64324	broad.mit.edu	37	5	176719085	176719085	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:176719085T>C	ENST00000439151.2	+	22	6434	c.6389T>C	c.(6388-6390)cTc>cCc	p.L2130P	NSD1_ENST00000361032.4_Missense_Mutation_p.L2027P|NSD1_ENST00000354179.4_Missense_Mutation_p.L1861P|NSD1_ENST00000347982.4_Missense_Mutation_p.L1861P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2130					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGGCCAGCTCGTCTCCTGC	0.502000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	6					0	0	0.004482	0	0
DOCK6	57572	broad.mit.edu	37	19	11319778	11319778	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:11319778T>C	ENST00000294618.7	-	38	4764	c.4751_splice	c.e38-1	p.I1585_splice	DOCK6_ENST00000319867.7_Splice_Site_p.I924_splice|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1585	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCCGGGCAATTCTGGAGTCC	0.652000													18	9					0	0	0.001216	0	0
S100A8	6279	broad.mit.edu	37	1	153362891	153362891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:153362891C>T	ENST00000368733.3	-	2	290	c.121G>A	c.(121-123)Gag>Aag	p.E41K	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.E41K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	41	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGGACACTCGGTCTCTAGC	0.582000													44	39					0	0	0.003214	0	0
GTF3C2	2976	broad.mit.edu	37	2	27552100	27552100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27552100G>A	ENST00000359541.2	-	14	2356	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F	GTF3C2_ENST00000264720.3_Missense_Mutation_p.L643F			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	643						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACGTCGAAGGTCCCAGAAT	0.493000													123	195					0	0	0.003610	0	0
QRICH2	84074	broad.mit.edu	37	17	74274117	74274117	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:74274117G>A	ENST00000262765.5	-	15	4751	c.4572C>T	c.(4570-4572)atC>atT	p.I1524I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1524							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCAGCTCGCGGATTATCTGGC	0.642000													81	69					0	0	0.003610	0	0
IARS2	55699	broad.mit.edu	37	1	220284190	220284190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:220284190C>T	ENST00000366922.1	+	11	1505	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	IARS2_ENST00000302637.5_Missense_Mutation_p.P464S			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCATAGCTATCCGTATGACTG	0.358000													13	27					0	0	0.003163	0	0
NEFM	4741	broad.mit.edu	37	8	24775339	24775339	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24775339G>A	ENST00000221166.5	+	3	2753	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Silent_p.P281P|NEFM_ENST00000437366.2_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	657	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.P657P(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCTGTGCCGAAATCACCAG	0.502000													79	42					0	0	0.003610	0	0
MUC2	4583	broad.mit.edu	37	11	1093547	1093547	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1093547C>A	ENST00000441003.2	+	30	5393	c.5366C>A	c.(5365-5367)aCc>aAc	p.T1789N	MUC2_ENST00000359061.5_Missense_Mutation_p.1745_1745insN|MUC2_ENST00000333592.6_Missense_Mutation_p.T77N|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1781						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aagagtacaaccgtgacaccc	0.597000													11	4					3.86212e-05	4.91e-05	0.000673	1	0
PSG5	5673	broad.mit.edu	37	19	43683205	43683205	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43683205G>A	ENST00000599812.1	-	3	630	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATCCACCACAGGTAGCTTGTG	0.502000													37	126					0	0	0.004878	0	0
NOTUM	147111	broad.mit.edu	37	17	79914536	79914536	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79914536C>T	ENST00000409678.3	-	8	1361	c.978G>A	c.(976-978)ccG>ccA	p.P326P		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	326						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCGCAGGGTCGGGTAGACCT	0.632000													19	47					0	0	0.001216	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701516	48701516	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:48701516G>A	ENST00000236495.5	+	11	1382	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	SLC5A9_ENST00000438567.2_Silent_p.R419R|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.R440R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	419						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCTTCCGCAGGAAGTCAACAG	0.612000													13	36					0	0	0.002450	0	0
CHD7	55636	broad.mit.edu	37	8	61766932	61766932	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:61766932C>T	ENST00000423902.2	+	32	7265	c.6786C>T	c.(6784-6786)gtC>gtT	p.V2262V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2262					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAGCTGTCTCTAGAGGGA	0.408000													10	19					0	0	0.000673	0	0
CFAP54	144535	broad.mit.edu	37	12	97137822	97137822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:97137822G>A	ENST00000524981.3	+	22	2935	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K				Q6ZTY8	CL063_HUMAN		953								p.E953K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAACAATTGAATTTCGTTC	0.308000													18	7					0	0	0.006122	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891309	30891309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:30891309C>T	ENST00000392772.2	-	5	470	c.193G>A	c.(193-195)Gat>Aat	p.D65N	SEC14L4_ENST00000540456.1_Missense_Mutation_p.D104N|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D119N|SEC14L4_ENST00000381982.3_Missense_Mutation_p.D119N			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	119						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGGATCATATCCTGCTTGGAG	0.572000													14	27					0	0	0.003163	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739392	46739392	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:46739392G>A	ENST00000306448.4	-	2	1572	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ATP6V1E2_ENST00000522587.1_Silent_p.P153P	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	153					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	p.P153P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCATGTACTCGGGGATGGCTT	0.542000													33	54					0	0	0.002836	0	0
ZNF878	729747	broad.mit.edu	37	19	12154888	12154888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12154888C>T	ENST00000602107.1	-	5	1468	c.1469G>A	c.(1468-1470)aGg>aAg	p.R490K	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.R443K			C9JN71	ZN878_HUMAN	zinc finger protein 878	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTGAGTCCTTTCATGCAT	0.403000													6	43					0	0	0.001984	0	0
OR6S1	341799	broad.mit.edu	37	14	21108993	21108993	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:21108993T>C	ENST00000320704.3	-	1	857	c.858A>G	c.(856-858)ccA>ccG	p.P286P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GATTCAACAGTGGTGTCACAA	0.443000													77	61					0	0	0.003610	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747382	64747382	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:64747382G>A	ENST00000536360.1	-	7	1806	c.993C>T	c.(991-993)tcC>tcT	p.S331S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	331	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGGAGAGAATGGATTTCTGCC	0.418000													15	31					0	0	0.003163	0	0
CTCFL	140690	broad.mit.edu	37	20	56078532	56078532	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:56078532C>T	ENST00000429804.2	-	9	2210	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	CTCFL_ENST00000243914.3_Silent_p.K600K|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000502686.2_Silent_p.K338K|CTCFL_ENST00000423479.2_Silent_p.K600K|CTCFL_ENST00000433949.2_Silent_p.K600K|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Silent_p.K600K	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	600					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCGCAGCTTCCTTCTGACCCT	0.498000													83	113					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168096396	168096396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168096396C>T	ENST00000409195.1	+	6	979	c.890C>T	c.(889-891)tCa>tTa	p.S297L	XIRP2_ENST00000409728.1_Missense_Mutation_p.S330L|XIRP2_ENST00000409605.1_Missense_Mutation_p.S75L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S297L|XIRP2_ENST00000409273.1_Missense_Mutation_p.S75L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S330L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S297L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S297L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	122					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTGGCACTTCAAGAAGCAGC	0.378000													22	34					0	0	0.002780	0	0
MGAT3	4248	broad.mit.edu	37	22	39884193	39884193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:39884193G>A	ENST00000341184.6	+	2	1056	c.841G>A	c.(841-843)Ggc>Agc	p.G281S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	281					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCGCCCGGCGGCCGGCAGGA	0.667000													89	57					0	0	0.003610	0	0
APBA2	321	broad.mit.edu	37	15	29390742	29390742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:29390742C>T	ENST00000558402.1	+	10	1900	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	APBA2_ENST00000558330.1_Missense_Mutation_p.S422F|APBA2_ENST00000411764.1_Missense_Mutation_p.S422F|APBA2_ENST00000561069.1_Missense_Mutation_p.S434F|APBA2_ENST00000558259.1_Missense_Mutation_p.S434F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	434	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTTCATTTCCACCCAGAGG	0.448000													16	67					0	0	0.001216	0	0
MGAM	8972	broad.mit.edu	37	7	141754605	141754605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141754605C>T	ENST00000475668.2	+	27	3265	c.3211C>T	c.(3211-3213)Ccc>Tcc	p.P1071S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1071S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1071	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGAACATACCCAGCATGCC	0.438000													60	47					0	0	0.003610	0	0
TIMP3	7078	broad.mit.edu	37	22	33253278	33253278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:33253278C>T	ENST00000266085.6	+	3	548	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	83	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GCAGTACATCCATACGGAAGC	0.512000													62	41					0	0	0.003610	0	0
OGDHL	55753	broad.mit.edu	37	10	50954808	50954808	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50954808G>A	ENST00000374103.4	-	10	1369	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	OGDHL_ENST00000432695.1_Silent_p.V219V|OGDHL_ENST00000419399.1_Silent_p.V371V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	428					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V428V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGTTGACGACGACGTGCA	0.597000													5	25					0	0	0.001168	0	0
FSCN2	25794	broad.mit.edu	37	17	79495898	79495898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79495898C>T	ENST00000417245.2	+	1	477	c.341C>T	c.(340-342)aCc>aTc	p.T114I	FSCN2_ENST00000334850.7_Missense_Mutation_p.T114I	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	114					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTCGGAGGCACCGAGGACCAG	0.716000													9	8					0	0	0.000673	0	0
PSD2	84249	broad.mit.edu	37	5	139189270	139189270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:139189270C>T	ENST00000274710.3	+	2	450	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	82					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGCCTAGCCCTGGGGCCA	0.627000													45	33					0	0	0.002852	0	0
CECR1	51816	broad.mit.edu	37	22	17688079	17688079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17688079C>T	ENST00000399839.1	-	3	694	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	CECR1_ENST00000449907.2_Missense_Mutation_p.G100R|CECR1_ENST00000399837.2_Missense_Mutation_p.G142R|CECR1_ENST00000262607.3_Missense_Mutation_p.G142R			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	142	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGCATGATCCCCCTTGGGGTG	0.532000													69	24					0	0	0.003610	0	0
RGAG1	57529	broad.mit.edu	37	X	109697580	109697580	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:109697580C>T	ENST00000465301.2	+	3	3981	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G	RGAG1_ENST00000540313.1_Silent_p.G1245G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1245										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCAAACAGGGCCAAAAGTCAG	0.483000													51	56					0	0	0.003610	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862927	67862927	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:67862927C>T	ENST00000433211.1	-	14	2139	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G	CTNNA3_ENST00000373744.4_Silent_p.G655G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCAGTTTTCCCTTCGGTCT	0.493000													11	26					0	0	0.000978	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591627	70591627	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:70591627G>A	ENST00000260126.3	-	8	2716	c.2010C>T	c.(2008-2010)atC>atT	p.I670I	SLCO5A1_ENST00000530307.1_Silent_p.I615I|SLCO5A1_ENST00000524945.1_Silent_p.I670I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	670						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGTTACTATGATAGCTGATG	0.423000													53	35					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13901535	13901535	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13901535C>T	ENST00000265104.4	-	14	1982	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	626	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCACAAAATCTTTCCAGCGA	0.498000									Kartagener syndrome				24	14					0	0	0.003954	0	0
UBP1	7342	broad.mit.edu	37	3	33481296	33481296	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:33481296C>T	ENST00000283629.3	-	1	574	c.45G>A	c.(43-45)ctG>ctA	p.L15L	UBP1_ENST00000283628.5_Silent_p.L15L|UBP1_ENST00000447368.2_Silent_p.L15L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	15					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGTCGTGCACCAGCCCGGACT	0.697000													23	83					0	0	0.003954	0	0
OR6T1	219874	broad.mit.edu	37	11	123813841	123813841	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123813841C>T	ENST00000321252.2	-	1	739	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAAACGCTTTCCTTCGCTCAG	0.512000													13	16					0	0	0.001368	0	0
CCDC110	256309	broad.mit.edu	37	4	186380141	186380141	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:186380141A>G	ENST00000307588.3	-	6	1675	c.1600T>C	c.(1600-1602)Tta>Cta	p.L534L	CCDC110_ENST00000393540.3_Silent_p.L497L|CCDC110_ENST00000510617.1_Silent_p.L534L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	534						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTTCTCTAAAGAAAGTTGT	0.274000													21	26					0	0	0.001882	0	0
NFIC	4782	broad.mit.edu	37	19	3381876	3381876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3381876C>T	ENST00000589123.1	+	2	290	c.170C>T	c.(169-171)cCc>cTc	p.P57L	NFIC_ENST00000586919.1_Missense_Mutation_p.P57L|NFIC_ENST00000443272.2_Missense_Mutation_p.P66L|NFIC_ENST00000395111.3_Missense_Mutation_p.P57L|NFIC_ENST00000346156.5_Missense_Mutation_p.P57L|NFIC_ENST00000341919.3_Missense_Mutation_p.P66L|NFIC_ENST00000590282.1_Missense_Mutation_p.P66L	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	66					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCGAGAAGCCCGAGGTCAAG	0.642000													61	49					0	0	0.003610	0	0
GIMAP5	55340	broad.mit.edu	37	7	150437980	150437980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150437980G>A	ENST00000358647.3	+	2	375	c.8G>A	c.(7-9)gGa>gAa	p.G3E	GIMAP5_ENST00000479556.1_Intron	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAATGGGAGGATTCCAGAGG	0.458000													7	40					0	0	0.003080	0	0
GPR12	2835	broad.mit.edu	37	13	27333418	27333418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:27333418G>A	ENST00000405846.3	-	2	768	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GPR12_ENST00000381436.2_Nonsense_Mutation_p.R183*	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	183						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GACTCGTCTCGGAGGCAGTTC	0.597000													11	25					0	0	0.000673	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206144	36206144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36206144G>A	ENST00000392197.2	+	3	934	c.616G>A	c.(616-618)Gat>Aat	p.D206N	ZBTB32_ENST00000262630.3_Missense_Mutation_p.D206N			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	206					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGGGGAGCAGATGGGAAGCA	0.617000													9	31					0	0	0.006214	0	0
HECTD1	25831	broad.mit.edu	37	14	31619269	31619269	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:31619269G>A	ENST00000399332.1	-	13	2579	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	HECTD1_ENST00000553700.1_Silent_p.I697I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCATCCAAGATAAATCTGA	0.388000													27	55					0	0	0.005443	0	0
MAP3K15	389840	broad.mit.edu	37	X	19398347	19398347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19398347C>T	ENST00000338883.4	-	19	2479	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G262E|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G659E	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	827	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGCACCATATCCGCGAGGCCC	0.547000													6	4					0	0	0.001168	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155011	55155011	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:55155011A>C	ENST00000257290.5	+	20	3051	c.2720A>C	c.(2719-2721)aAt>aCt	p.N907T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.N667T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	907	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACTTTCTACAATAAGATCAAG	0.522000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			16	18					0	0	0.006122	0	0
PTPRT	11122	broad.mit.edu	37	20	41076908	41076908	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:41076908G>A	ENST00000373198.3	-	9	1747	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	PTPRT_ENST00000373184.1_Silent_p.I504I|PTPRT_ENST00000373193.3_Silent_p.I504I|PTPRT_ENST00000373201.1_Silent_p.I504I|PTPRT_ENST00000373187.1_Silent_p.I504I|PTPRT_ENST00000356100.2_Silent_p.I504I|PTPRT_ENST00000373190.1_Silent_p.I504I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	504	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTTCCACTGGATGTAGATCT	0.483000													64	97					0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205272647	205272647	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:205272647G>A	ENST00000367157.3	-	7	1944	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	606					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTCTGTCAGGGAAAAGCAGC	0.642000													21	24					0	0	0.001523	0	0
WNK1	65125	broad.mit.edu	37	12	1005522	1005522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:1005522C>T	ENST00000537687.1	+	24	7292	c.6649C>T	c.(6649-6651)Cgt>Tgt	p.R2217C	WNK1_ENST00000530271.2_Missense_Mutation_p.R2455C|WNK1_ENST00000315939.6_Missense_Mutation_p.R1957C|WNK1_ENST00000535572.1_Missense_Mutation_p.R1709C|WNK1_ENST00000340908.4_Missense_Mutation_p.R1550C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1957					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAAGTGGGTCGTTTCTCTGT	0.468000													48	18					0	0	0.003610	0	0
VWA9	81556	broad.mit.edu	37	15	65897475	65897475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:65897475G>A	ENST00000395644.4	-	3	657	c.322C>T	c.(322-324)Cct>Tct	p.P108S	VWA9_ENST00000313182.2_Missense_Mutation_p.P108S|VWA9_ENST00000431261.2_Missense_Mutation_p.P29S|VWA9_ENST00000567744.1_Missense_Mutation_p.P144S|VWA9_ENST00000569491.1_Missense_Mutation_p.P59S|VWA9_ENST00000442903.3_Intron|VWA9_ENST00000420799.2_Missense_Mutation_p.P51S					von Willebrand factor A domain containing 9																		ACCTGGCAAGGAATTGCACCA	0.413000													20	61					0	0	0.001882	0	0
COL4A4	1286	broad.mit.edu	37	2	227973564	227973564	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:227973564C>T	ENST00000396625.3	-	11	885	c.678G>A	c.(676-678)ggG>ggA	p.G226G	COL4A4_ENST00000329662.7_Silent_p.G226G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	226	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCTGGACGCCCTGGTTGGC	0.423000													6	9					0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	120989291	120989291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120989291C>T	ENST00000392793.1	+	7	1338	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	TECTA_ENST00000264037.2_Missense_Mutation_p.S356F			O75443	TECTA_HUMAN	tectorin alpha	356	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGCAGACTTCCAGCCTCCCT	0.557000													18	25					0	0	0.007413	0	0
VAT1	10493	broad.mit.edu	37	17	41174026	41174026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41174026G>A	ENST00000355653.3	-	1	409	c.314C>T	c.(313-315)cCt>cTt	p.P105L	VAT1_ENST00000587173.1_Intron	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	105						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACAGGCAGAGGCGGGAGACG	0.706000													23	1					0	0	0.001882	0	0
OR6C4	341418	broad.mit.edu	37	12	55945754	55945754	+	Silent	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55945754C>G	ENST00000394256.2	+	1	772	c.744C>G	c.(742-744)ctC>ctG	p.L248L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TCATCTCCCTCTCTTATGGCA	0.433000													29	12					0	0	0.002836	0	0
EPHB2	2048	broad.mit.edu	37	1	23239983	23239983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:23239983G>A	ENST00000400191.3	+	16	2899	c.2881G>A	c.(2881-2883)Gct>Act	p.A961T	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.A961T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A962T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	961	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGTCACTTTGGCTGGCCACCA	0.542000													15	22					0	0	0.003163	0	0
KIF26B	55083	broad.mit.edu	37	1	245582915	245582915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:245582915G>A	ENST00000407071.2	+	4	1474	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	345					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCCGGGAGGGACTAACAGAA	0.562000													9	17					0	0	0.004482	0	0
STAB1	23166	broad.mit.edu	37	3	52529459	52529459	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52529459C>T	ENST00000321725.6	+	1	106	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	10					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTCCCACTCTGCCTCCTGG	0.692000													5	20					0	0	0.000602	0	0
NCBP2L	392517	broad.mit.edu	37	X	107037559	107037559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:107037559G>A	ENST00000372379.1	+	1	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RP5-820B18.3_ENST00000509000.1_RNA					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						ATTACTGAAGGAAAGCTCCAC	0.398000													18	14					0	0	0.004990	0	0
OMD	4958	broad.mit.edu	37	9	95179207	95179207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:95179207C>T	ENST00000375550.4	-	2	909	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	212			E -> G (in dbSNP:rs34413259).		cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATTAGTTTTTCCATTTTGGCA	0.353000			T	USP6	aneurysmal bone cysts								39	8					0	0	0.005524	0	0
NLRP1	22861	broad.mit.edu	37	17	5461922	5461922	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:5461922C>T	ENST00000345221.3	-	4	2648	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP1_ENST00000354411.3_Silent_p.R698R|NLRP1_ENST00000572272.1_Silent_p.R698R|NLRP1_ENST00000269280.4_Silent_p.R698R|NLRP1_ENST00000577119.1_Silent_p.R698R|NLRP1_ENST00000262467.5_Silent_p.R698R|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	698					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCAGGTTCCTCCCCTGAG	0.557000													38	11					0	0	0.005524	0	0
ABCB6	10058	broad.mit.edu	37	2	220079733	220079733	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220079733A>C	ENST00000265316.3	-	6	1542	c.1226T>G	c.(1225-1227)tTc>tGc	p.F409C	ABCB6_ENST00000439002.2_Missense_Mutation_p.F363C	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	409	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGCGTTGAAGAACATGCT	0.512000													38	41					0	0	0.006999	0	0
SCN2A	6326	broad.mit.edu	37	2	166170230	166170230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:166170230C>T	ENST00000375437.2	+	9	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_ENST00000283256.6_Missense_Mutation_p.R379C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R379C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R379C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	379					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R379C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCTTATTTCGTCTCATGAC	0.413000													17	34					0	0	0.004990	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957679	52957679	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:52957679G>A	ENST00000281741.4	-	10	1172	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	267					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGCCCAGTTGGAGATGGACAG	0.383000													17	31					0	0	0.004990	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124390770C>T	ENST00000368909.3	+	46	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1978C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1978	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGTAATCATCGTGAAGATGC	0.542000													13	49					0	0	0.003163	0	0
SIN3B	23309	broad.mit.edu	37	19	16957920	16957920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16957920C>T	ENST00000379803.1	+	5	736	c.722C>T	c.(721-723)tCt>tTt	p.S241F	SIN3B_ENST00000596802.1_Missense_Mutation_p.S241F|SIN3B_ENST00000248054.5_Missense_Mutation_p.S241F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	241					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCAAGCGGTCTCTGGTGAGT	0.652000													7	39					0	0	0.004482	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17981152	17981152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:17981152C>T	ENST00000361221.3	+	23	2575	c.2416C>T	c.(2416-2418)Cct>Tct	p.P806S	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P509S|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P801S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P767S|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P767S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P579S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	806					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGTCCACAGTCCTGTCAACTG	0.592000													100	118					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233120181	233120181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233120181C>T	ENST00000258229.8	-	34	6517	c.6283G>A	c.(6283-6285)Ggg>Agg	p.G2095R	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2095						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAAGCTGCCCCTGCTCGGTG	0.592000													24	57					0	0	0.006320	0	0
PSD3	23362	broad.mit.edu	37	8	18658824	18658824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:18658824G>A	ENST00000440756.2	-	7	2081	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	PSD3_ENST00000523619.1_Missense_Mutation_p.S595F|PSD3_ENST00000327040.8_Missense_Mutation_p.S660F|PSD3_ENST00000286485.8_Missense_Mutation_p.S126F			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	660	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATATCTATTGGAGAAGTGTAT	0.294000													27	17					0	0	0.001786	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000													13	41					0	0	0.003163	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865257	42865257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:42865257C>T	ENST00000431473.3	+	2	475	c.346C>T	c.(346-348)Caa>Taa	p.Q116*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	116	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGGACGTTCCAAGAACTGGC	0.502000													16	6					0	0	0.006122	0	0
TMEM214	54867	broad.mit.edu	37	2	27257114	27257114	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27257114C>T	ENST00000238788.9	+	2	393	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	TMEM214_ENST00000404032.3_Silent_p.L111L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	111						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTTCCGCAGCCTGGAGGAAGC	0.547000													15	26					0	0	0.006122	0	0
TRIM21	6737	broad.mit.edu	37	11	4406621	4406621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4406621G>A	ENST00000254436.7	-	7	1434	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	TRIM21_ENST00000543625.1_Missense_Mutation_p.P441L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	441	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGCCGCAGAGGTCCTGTAAA	0.498000													5	9					0	0	0.000602	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541923	112541923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:112541923G>A	ENST00000341068.3	-	41	5744	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1658					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGAGTTCTGGAAGAAGGGTA	0.438000													21	90					0	0	0.007291	0	0
LIPC	3990	broad.mit.edu	37	15	58840751	58840751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:58840751G>A	ENST00000414170.3	+	7	1318	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	LIPC_ENST00000356113.6_Missense_Mutation_p.R344Q|LIPC_ENST00000433326.2_Missense_Mutation_p.R283Q|LIPC_ENST00000299022.5_Missense_Mutation_p.R344Q			P11150	LIPC_HUMAN	lipase, hepatic	344					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTCGTAACGCGAGCCCAGTCC	0.632000													14	6					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141122324	141122324	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:141122324G>A	ENST00000389484.3	-	72	12008	c.11037C>T	c.(11035-11037)ttC>ttT	p.F3679F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3679	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTGCAAAGGAACTCATCAG	0.403000										TSP Lung(27;0.18)			8	11					0	0	0.004482	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	rs141766544		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428000													49	146					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50866094	50866094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:50866094C>T	ENST00000442544.2	+	15	2792	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	DCC_ENST00000581580.1_Missense_Mutation_p.P381S|DCC_ENST00000412726.1_Missense_Mutation_p.P574S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	726	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCTCAAGTTCCTGATCAACC	0.428000													18	4					0	0	0.001523	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722508	18722508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18722508C>T	ENST00000280734.2	+	2	146	c.50C>T	c.(49-51)cCg>cTg	p.P17L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	17						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AAACTGGTGCCGTTCTTCAAG	0.572000													29	63					0	0	0.007291	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409336	22409336	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22409336G>A	ENST00000390441.2	+	0	24																											TCATGTTAAGGATCAAGACCA	0.418000													4	13					0	0	0.000248	0	0
MYO7B	4648	broad.mit.edu	37	2	128388855	128388855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:128388855C>T	ENST00000389524.4	+	36	4987	c.4934C>T	c.(4933-4935)tCc>tTc	p.S1645F	MYO7B_ENST00000409816.2_Missense_Mutation_p.S1645F|MYO7B_ENST00000409090.1_Missense_Mutation_p.S498F|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1645F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1645	MyTH4 2.|SH3 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGGCCTATTCCTGCGAGCCG	0.642000													15	11					0	0	0.003163	0	0
RDH8	50700	broad.mit.edu	37	19	10124205	10124205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10124205C>T	ENST00000591589.1	+	1	281	c.92C>T	c.(91-93)tCc>tTc	p.S31F	RDH8_ENST00000171214.1_Missense_Mutation_p.S11F			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	11					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGTTGATCTCCGGCTGCTCA	0.607000													39	63					0	0	0.002522	0	0
DDX60L	91351	broad.mit.edu	37	4	169315626	169315626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:169315626C>T	ENST00000511577.1	-	28	4047	c.3800G>A	c.(3799-3801)gGg>gAg	p.G1267E	DDX60L_ENST00000260184.7_Missense_Mutation_p.G1267E|DDX60L_ENST00000505890.1_Missense_Mutation_p.G1268E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1267	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTAATAAGCCCTTTTACAAA	0.328000													8	12					0	0	0.004482	0	0
MROH2B	133558	broad.mit.edu	37	5	41000372	41000372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41000372G>A	ENST00000399564.4	-	39	4882	c.4432C>T	c.(4432-4434)Cag>Tag	p.Q1478*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q1033*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGTAGATCCTGATCAAGGAGA	0.498000													22	31					0	0	0.001523	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250188	140250188	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140250188C>T	ENST00000398640.2	+	1	1500	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGGGCGACCGCGCGCTGT	0.682000													64	70					0	0	0.003610	0	0
OR9A2	135924	broad.mit.edu	37	7	142723786	142723786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142723786C>T	ENST00000350513.2	-	1	496	c.434G>A	c.(433-435)tGg>tAg	p.W145*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TCCAAACACCCATGACACTAT	0.433000													35	26					0	0	0.002836	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199365	107199365	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:107199365G>A	ENST00000433072.2	-	0	106																											TAACAACAAGGAAAACCCAGC	0.468000													30	68					0	0	0.002445	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230588	69230588	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69230588A>T	ENST00000542259.1	-	22	2602	c.2151T>A	c.(2149-2151)gtT>gtA	p.V717V	FRMD4B_ENST00000398540.3_Silent_p.V771V|FRMD4B_ENST00000478263.1_Silent_p.V423V			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	771						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGAAGTAGAAACATTCTGTT	0.488000													15	48					0	0	0.003163	0	0
DNAH10	196385	broad.mit.edu	37	12	124330297	124330297	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124330297C>T	ENST00000409039.3	+	30	5182	c.5157C>T	c.(5155-5157)atC>atT	p.I1719I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1719	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCGGCAGATCGATGAGTTGG	0.493000													47	3					0	0	0.002852	0	0
ZXDC	79364	broad.mit.edu	37	3	126180810	126180810	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:126180810G>A	ENST00000389709.3	-	6	1748	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	ZXDC_ENST00000336332.5_Silent_p.P565P	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	565					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCAGGACCAGGGGTTCCATCG	0.587000													18	47					0	0	0.007413	0	0
ALG13	79868	broad.mit.edu	37	X	110968239	110968239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:110968239G>A	ENST00000394780.3	+	15	1691	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	ALG13_ENST00000251943.4_Missense_Mutation_p.R456Q	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	560					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ATGCCCAGTCGGAAAGGAAGA	0.433000													17	37					0	0	0.006122	0	0
MYLK	4638	broad.mit.edu	37	3	123383085	123383085	+	Missense_Mutation	SNP	C	C	T	rs1142295		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123383085C>T	ENST00000360772.3	-	24	4230	c.3852G>A	c.(3850-3852)atG>atA	p.M1284I	MYLK_ENST00000346322.5_Missense_Mutation_p.M1215I|MYLK_ENST00000359169.1_Missense_Mutation_p.M1284I|MYLK_ENST00000475616.1_Missense_Mutation_p.M1284I|MYLK_ENST00000360304.3_Missense_Mutation_p.M1284I|MYLK_ENST00000354792.5_Missense_Mutation_p.M84I			Q15746	MYLK_HUMAN	myosin light chain kinase	1284	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			M -> I (in Ref. 3; AAD15922/AAD15923/ AAD15924).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCCACCTTCATGTGCTCGC	0.627000													18	80					0	0	0.007413	0	0
GAMT	2593	broad.mit.edu	37	19	1398863	1398863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:1398863C>T	ENST00000447102.3	-	5	715	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	GAMT_ENST00000252288.2_Intron	NM_138924.2	NP_620279.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	0					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	CCTTCCCACCCCCATCCAAGG	0.577000													7	7					0	0	0.001984	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676289	20676289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:20676289G>A	ENST00000525748.1	+	16	2542	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	757					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCACAGCCGGACTGGGGCCC	0.562000													17	37					0	0	0.004990	0	0
TNK2	10188	broad.mit.edu	37	3	195605370	195605370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195605370G>A	ENST00000333602.6	-	8	1725	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	TNK2_ENST00000381916.2_Missense_Mutation_p.H433Y|TNK2_ENST00000428187.1_Missense_Mutation_p.H402Y|TNK2_ENST00000316664.3_Missense_Mutation_p.H370Y|TNK2_ENST00000392400.1_Missense_Mutation_p.H370Y	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	370	Protein kinase.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTGGCTTGTGAGCCCAGCAC	0.627000													52	34					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179736252	179736252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179736252C>T	ENST00000420890.2	-	14	2224	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E128K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	128							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATAAGTGCTTCCTGAAGAAGT	0.403000													25	42					0	0	0.003330	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069633	114069633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:114069633G>A	ENST00000462705.1	-	11	1894	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	ZBTB20_ENST00000464560.1_Missense_Mutation_p.S358F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S358F|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S358F|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S431F|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S358F|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S358F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCCGGAGAGGAAGCACCTGT	0.597000													36	72					0	0	0.005524	0	0
ZNF468	90333	broad.mit.edu	37	19	53345199	53345199	+	Silent	SNP	G	G	A	rs144646148	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53345199G>A	ENST00000595646.1	-	4	468	c.348C>T	c.(346-348)atC>atT	p.I116I	ZNF468_ENST00000396409.4_Silent_p.I63I|ZNF468_ENST00000390651.4_Silent_p.I63I|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCAACTCTTTGATTTCTGTCA	0.418000													22	103					0	0	0.003330	0	0
EXO1	9156	broad.mit.edu	37	1	242023951	242023951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:242023951C>T	ENST00000366548.3	+	9	1482	c.889C>T	c.(889-891)Cct>Tct	p.P297S	EXO1_ENST00000518483.1_Missense_Mutation_p.P297S|EXO1_ENST00000348581.5_Missense_Mutation_p.P297S	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	297	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAAACTTATTCCTCTGAACGC	0.408000								Editing and processing nucleases					29	35					0	0	0.002445	0	0
COL22A1	169044	broad.mit.edu	37	8	139793219	139793219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:139793219G>A	ENST00000303045.6	-	13	2047	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	COL22A1_ENST00000435777.1_Missense_Mutation_p.S534F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	534	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGCCCAGGGAACCCTAAAG	0.532000										HNSCC(7;0.00092)			12	66					0	0	0.001855	0	0
C15orf43	145645	broad.mit.edu	37	15	45270689	45270689	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45270689T>G	ENST00000340827.3	+	7	543	c.526T>G	c.(526-528)Tat>Gat	p.Y176D		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	176										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTTTGTAGGTTATATATCAAT	0.299000													16	45					0	0	0.007413	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928255	31928255	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:31928255T>A	ENST00000375394.2	+	5	514	c.401T>A	c.(400-402)cTt>cAt	p.L134H	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	134						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCTTGTCTCTTCGCCGGCCT	0.552000													244	300					0	0	0.003610	0	0
DNAH1	25981	broad.mit.edu	37	3	52391976	52391976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52391976C>T	ENST00000420323.2	+	24	4304	c.4043C>T	c.(4042-4044)gCc>gTc	p.A1348V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1348	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCCCACGGCCGTGCAGCCA	0.617000													9	31					0	0	0.001368	0	0
SLC28A1	9154	broad.mit.edu	37	15	85486726	85486726	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:85486726C>T	ENST00000394573.1	+	16	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.F544F|SLC28A1_ENST00000286749.3_Silent_p.F544F|SLC28A1_ENST00000538177.1_Silent_p.F378F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	544					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGCCAATTTCAGCTCCATTG	0.537000													14	55					0	0	0.004007	0	0
C10orf120	399814	broad.mit.edu	37	10	124459188	124459188	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124459188A>C	ENST00000329446.4	-	1	150	c.119T>G	c.(118-120)tTt>tGt	p.F40C		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	40										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGATCCTGAAAGGAAGAGTT	0.443000													6	27					0	0	0.003080	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464637	30464637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:30464637G>A	ENST00000355904.4	-	6	862	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	194					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTATCGGGACGATTTACAAAT	0.303000													32	29					0	0	0.003271	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798283	54798283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:54798283G>A	ENST00000474759.1	+	13	1333	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E429K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E335K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E429K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	429	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGTGCAGGAGAATGTCAT	0.488000													17	79					0	0	0.006122	0	0
PNMA3	29944	broad.mit.edu	37	X	152226767	152226767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:152226767C>T	ENST00000447306.1	+	2	1691	c.1355C>T	c.(1354-1356)gCt>gTt	p.A452V	PNMA3_ENST00000370265.4_Intron|PNMA3_ENST00000370264.4_Missense_Mutation_p.A452V	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	452					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAACTGGGCTTGGGACAAG	0.537000													65	60					0	0	0.003610	0	0
OTOL1	131149	broad.mit.edu	37	3	161221586	161221586	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:161221586C>T	ENST00000327928.4	+	4	1290	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	430	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCTCTCTCCTCGTCATCTTGA	0.488000													4	17					0	0	0.000602	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120101	103120101	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:103120101C>T	ENST00000295269.4	+	3	1372	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	305					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCACTCATCGTCTTCATGT	0.428000													33	34					0	0	0.003271	0	0
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:167168167C>T	ENST00000375387.4	-	2	440	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	SCN9A_ENST00000409435.1_Missense_Mutation_p.E34K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E34K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E34K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTTGGGTTCCTTTGATTTT	0.468000													32	66					0	0	0.002096	0	0
COL6A3	1293	broad.mit.edu	37	2	238267682	238267682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:238267682C>T	ENST00000295550.4	-	20	6856	c.6404G>A	c.(6403-6405)aGa>aAa	p.R2135K	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1929K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1935K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1528K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1929K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1934K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2135	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTACCCTTCTTCCAGGATT	0.418000													164	198					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34190264	34190264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34190264G>A	ENST00000373381.4	-	18	2913	c.2737C>T	c.(2737-2739)Cca>Tca	p.P913S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	873	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTTACTGGGATTCCTGGA	0.547000													9	28					0	0	0.006214	0	0
PDZD4	57595	broad.mit.edu	37	X	153070124	153070124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153070124C>T	ENST00000164640.4	-	8	1185	c.994G>A	c.(994-996)Gac>Aac	p.D332N	PDZD4_ENST00000393758.2_Missense_Mutation_p.D257N|PDZD4_ENST00000544474.1_Missense_Mutation_p.D223N	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	332						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAGAGTCCATGCTGAAA	0.672000													17	39					0	0	0.004990	0	0
TEP1	7011	broad.mit.edu	37	14	20845516	20845516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20845516G>A	ENST00000262715.5	-	41	6051	c.6011C>T	c.(6010-6012)tCc>tTc	p.S2004F	TEP1_ENST00000556935.1_Missense_Mutation_p.S1896F|TEP1_ENST00000545983.1_Missense_Mutation_p.S342F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2004					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGCCAGAGGGACTGAAGGGA	0.597000													17	27					0	0	0.004007	0	0
ZNF611	81856	broad.mit.edu	37	19	53209718	53209718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53209718G>A	ENST00000543227.1	-	6	864	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZNF611_ENST00000540744.1_Missense_Mutation_p.S197F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S197F|ZNF611_ENST00000602162.1_Missense_Mutation_p.S128F|ZNF611_ENST00000453741.2_Missense_Mutation_p.S128F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S128F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGGCCTACAGGAAATTCTTTG	0.383000													26	103					0	0	0.004656	0	0
FAAH	2166	broad.mit.edu	37	1	46871062	46871062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:46871062G>A	ENST00000243167.8	+	4	547	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	155					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTCCACGCTGGGCTTGAGCCT	0.637000													40	38					0	0	0.002222	0	0
TMC7	79905	broad.mit.edu	37	16	19051673	19051673	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19051673C>T	ENST00000421369.3	+	9	1470	c.912C>T	c.(910-912)atC>atT	p.I304I	TMC7_ENST00000569532.1_Silent_p.I414I|TMC7_ENST00000304381.5_Silent_p.I414I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	414						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTATTGTGATCACGCTGGCCA	0.403000													45	35					0	0	0.003214	0	0
CUZD1	50624	broad.mit.edu	37	10	124593308	124593308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124593308G>A	ENST00000368904.1	-	10	2480	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	CUZD1_ENST00000545804.1_Missense_Mutation_p.R511C|CUZD1_ENST00000392790.1_Missense_Mutation_p.R511C			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	511	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGATTGCAGCGAGACTGGTGG	0.408000													15	23					0	0	0.004007	0	0
CAMK1G	57172	broad.mit.edu	37	1	209768407	209768407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:209768407G>A	ENST00000009105.1	+	2	324	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	CAMK1G_ENST00000361322.2_Missense_Mutation_p.E27K			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	27	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CATTTTTATGGAAGTGCTGGG	0.517000													21	24					0	0	0.003330	0	0
CRHR2	1395	broad.mit.edu	37	7	30706899	30706899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:30706899C>T	ENST00000471646.1	-	3	677	c.260G>A	c.(259-261)gGg>gAg	p.G87E	CRHR2_ENST00000348438.4_Missense_Mutation_p.G114E|CRHR2_ENST00000506074.2_Missense_Mutation_p.G87E|CRHR2_ENST00000341843.4_Missense_Mutation_p.G73E	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	87					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.G73E(1)|p.G87E(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCACGTCCCATTCTCCAA	0.542000													32	19					0	0	0.002096	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280227	18280227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:18280227G>A	ENST00000377369.2	+	8	1690	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	SLC39A12_ENST00000539911.1_Missense_Mutation_p.D339N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D473N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D473N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	473					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATCACCAAATGACAAGGTATA	0.303000													11	24					0	0	0.000673	0	0
REG3A	5068	broad.mit.edu	37	2	79386514	79386514	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79386514G>A	ENST00000393878.1	-	1	272	c.18C>T	c.(16-18)gcC>gcT	p.A6A	REG3A_ENST00000409839.3_Silent_p.A6A|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Silent_p.A6A	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	6					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CACTGGGCAGGGCCATGGGAG	0.537000													13	25					0	0	0.001855	0	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659728	30659728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:30659728G>A	ENST00000397827.3	-	8	1114	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	CHRFAM7A_ENST00000299847.2_Nonsense_Mutation_p.Q205*|CHRFAM7A_ENST00000401522.3_Nonsense_Mutation_p.Q114*	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	205						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GCGAAGTACTGGGCTGTGGAG	0.627000													27	30					0	0	0.007291	0	0
DNAH17	8632	broad.mit.edu	37	17	76548882	76548882	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:76548882C>T	ENST00000389840.5	-	15	2308	c.2184G>A	c.(2182-2184)aaG>aaA	p.K728K	DNAH17_ENST00000585328.1_Silent_p.K728K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCACTATAGTCTTTATCTGAA	0.378000													140	107					0	0	0.003610	0	0
TRIML2	205860	broad.mit.edu	37	4	189020158	189020158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:189020158G>A	ENST00000536972.1	-	5	899	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATACTGGAATGAATTTTATTT	0.428000													6	21					0	0	0.001168	0	0
PDGFC	56034	broad.mit.edu	37	4	157732134	157732134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:157732134C>T	ENST00000502773.1	-	3	840	c.350G>A	c.(349-351)gGa>gAa	p.G117E	PDGFC_ENST00000422544.2_Missense_Mutation_p.G117E|PDGFC_ENST00000542208.1_5'UTR|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	117	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TAATATAGTTCCATCACTGGG	0.353000													8	13					0	0	0.000673	0	0
LRP12	29967	broad.mit.edu	37	8	105503740	105503740	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:105503740C>A	ENST00000276654.5	-	7	1849	c.1741G>T	c.(1741-1743)Gcg>Tcg	p.A581S	LRP12_ENST00000424843.2_Missense_Mutation_p.A562S|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	581					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GATCGTACCGCTAGCCTCAGA	0.358000													14	30					2.31682e-05	2.95096e-05	0.003163	1	0
TGM4	7047	broad.mit.edu	37	3	44932094	44932094	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44932094G>A	ENST00000296125.4	+	4	368		c.e4-1			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGTTTGCTCAGGTCACAGTGG	0.478000													63	26					0	0	0.003610	0	0
RASGRP4	115727	broad.mit.edu	37	19	38904084	38904084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:38904084C>T	ENST00000454404.2	-	10	1372	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	RASGRP4_ENST00000587753.1_Missense_Mutation_p.E352K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E232K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E407K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E329K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E324K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E421K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	421	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCATAGATCTCGTCTTCCGTG	0.612000													8	4					0	0	0.003080	0	0
STARD3	10948	broad.mit.edu	37	17	37819238	37819238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:37819238C>T	ENST00000580611.1	+	14	1490	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	STARD3_ENST00000336308.5_3'UTR|STARD3_ENST00000544210.2_3'UTR|STARD3_ENST00000394250.4_3'UTR			Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	0					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGTTGGGCTCGCACTGCCCA	0.692000													36	2					0	0	0.002836	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870130	151870130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151870130G>A	ENST00000329342.5	+	3	1045	c.820G>A	c.(820-822)Ggt>Agt	p.G274S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	274	MAGE.						protein binding	p.G274S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCTGTGGGGTCCAAGGGC	0.532000													70	79					0	0	0.003610	0	0
HDAC8	55869	broad.mit.edu	37	X	71708808	71708808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:71708808C>T	ENST00000439122.2	-	7	998	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	HDAC8_ENST00000373589.4_Missense_Mutation_p.E147K|HDAC8_ENST00000373559.4_Missense_Mutation_p.E121K|HDAC8_ENST00000373573.3_Missense_Mutation_p.E238K|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.E43K|HDAC8_ENST00000373561.4_Missense_Mutation_p.E238K|HDAC8_ENST00000373571.1_Missense_Mutation_p.E238K|HDAC8_ENST00000373583.1_Intron	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	238	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TAATATTTTTCATCTTGTATG	0.438000													12	21					0	0	0.002450	0	0
DSP	1832	broad.mit.edu	37	6	7585853	7585853	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:7585853G>A	ENST00000379802.3	+	24	8699	c.8358G>A	c.(8356-8358)aaG>aaA	p.K2786K	DSP_ENST00000418664.2_Silent_p.K2187K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2786	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATCCTATAAGGATGCCATAA	0.522000													138	41					0	0	0.003610	0	0
SMOC1	64093	broad.mit.edu	37	14	70420162	70420162	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70420162G>A	ENST00000381280.4	+	3	544	c.291G>A	c.(289-291)ctG>ctA	p.L97L	SMOC1_ENST00000361956.3_Silent_p.L97L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	97	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGTCGCCTGGAGCGGGCTC	0.562000													45	43					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27487825	27487825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:27487825G>A	ENST00000356183.4	-	29	4315	c.4300C>T	c.(4300-4302)Cag>Tag	p.Q1434*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1434*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1434						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCGTGCTCTGGATCAGGTTC	0.607000													20	28					0	0	0.001523	0	0
HEATR3	55027	broad.mit.edu	37	16	50118190	50118190	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:50118190C>T	ENST00000299192.7	+	9	1469	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	HEATR3_ENST00000285767.4_Silent_p.L340L|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	426							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCAACTACCTCATCCCAAAGA	0.473000													19	4					0	0	0.001882	0	0
UNC13A	23025	broad.mit.edu	37	19	17741523	17741523	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17741523C>T	ENST00000428389.2	-	30	3728	c.3729G>A	c.(3727-3729)gaG>gaA	p.E1243E	UNC13A_ENST00000519716.2_Silent_p.E1155E|UNC13A_ENST00000552293.1_Silent_p.E1155E|UNC13A_ENST00000551649.1_Silent_p.E1155E|UNC13A_ENST00000252773.7_Silent_p.E1155E|UNC13A_ENST00000550896.1_Silent_p.E1153E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1155					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTCCTCATTCTCATCCAGCC	0.582000													47	20					0	0	0.003610	0	0
WDR63	126820	broad.mit.edu	37	1	85573801	85573801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:85573801C>T	ENST00000294664.6	+	15	1819	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	WDR63_ENST00000370596.1_Missense_Mutation_p.P508S|WDR63_ENST00000326813.8_Missense_Mutation_p.P508S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	547										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTGAAATTCCTTTTGATGT	0.358000													7	52					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152284394C>T	ENST00000368799.1	-	3	3003	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis				90	82					0	0	0.003610	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179873116	179873116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179873116C>T	ENST00000435319.3	+	6	946	c.755C>T	c.(754-756)tCa>tTa	p.S252L	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.S253L	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	252						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCACCAGATCATCTAGTCAA	0.299000													8	11					0	0	0.004482	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069410	241069410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:241069410G>A	ENST00000307266.3	-	4	298	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GGGAACCATGGAGGACTGCTG	0.607000													23	32					0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164727096	164727096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:164727096C>T	ENST00000264382.3	-	35	4212	c.4150G>A	c.(4150-4152)Gaa>Aaa	p.E1384K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1384	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATCTTTTCATTGTAAAAG	0.373000										HNSCC(35;0.089)			18	26					0	0	0.001216	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507298	98507298	+	Silent	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98507298C>A	ENST00000265261.6	+	8	815	c.393C>A	c.(391-393)ccC>ccA	p.P131P	ST3GAL6_ENST00000483910.1_Silent_p.P249P|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.P249P	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	249					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAGTGTTTCCCAAAAATCAGG	0.378000													7	52					5.18039e-06	6.62007e-06	0.003080	1	0
CD1A	909	broad.mit.edu	37	1	158225874	158225874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158225874C>T	ENST00000289429.5	+	3	939	c.406C>T	c.(406-408)Caa>Taa	p.Q136*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	136					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTTAGCTTATCAAGGATCAGA	0.458000													33	19					0	0	0.002836	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573504	38573504	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:38573504G>A	ENST00000222345.6	+	3	1808	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	433					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCGCAATGAGATCGGGGGCG	0.657000													16	78					0	0	0.004990	0	0
THOC2	57187	broad.mit.edu	37	X	122758465	122758465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:122758465C>T	ENST00000245838.8	-	26	3144	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	THOC2_ENST00000355725.4_Missense_Mutation_p.R1038Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R923Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1038					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCTTCCGTATCGACTGGCTTC	0.353000													34	116					0	0	0.002836	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317681	30317681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:30317681C>T	ENST00000375377.1	-	3	1497	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	466										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCATTCCTCCATGAGCCGGC	0.522000													19	55					0	0	0.001882	0	0
RELA	5970	broad.mit.edu	37	11	65425868	65425868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:65425868G>A	ENST00000525693.1	-	8	829	c.767C>T	c.(766-768)cCc>cTc	p.P256L	RELA_ENST00000406246.3_Missense_Mutation_p.P256L|RELA_ENST00000308639.9_Missense_Mutation_p.P253L			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	256	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCTGCGTAGGGAGGGGTCCG	0.622000													15	21					0	0	0.007413	0	0
SCN10A	6336	broad.mit.edu	37	3	38770244	38770244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770244C>T	ENST00000449082.2	-	15	2428	c.2429G>A	c.(2428-2430)gGg>gAg	p.G810E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	810					sensory perception	voltage-gated sodium channel complex		p.G810V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTAGTTTTCCCCTAGGAGCTG	0.517000													42	32					0	0	0.002222	0	0
LRFN5	145581	broad.mit.edu	37	14	42356690	42356690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:42356690C>T	ENST00000554171.1	+	5	3294	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	LRFN5_ENST00000554120.1_Missense_Mutation_p.L288F|LRFN5_ENST00000298119.4_Missense_Mutation_p.L288F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	288	Ig-like.					integral to membrane		p.L288V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTCCTCTCATTACTCG	0.493000										HNSCC(30;0.082)			59	50					0	0	0.003610	0	0
PPEF2	5470	broad.mit.edu	37	4	76794280	76794280	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:76794280C>T	ENST00000286719.7	-	12	1862	c.1506_splice	c.e12+1	p.K502_splice		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	502	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCACCCACCTTGCGGTTGT	0.478000													13	22					0	0	0.002450	0	0
AMBN	258	broad.mit.edu	37	4	71472046	71472046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71472046G>A	ENST00000322937.6	+	13	1046	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	AMBN_ENST00000449493.2_Missense_Mutation_p.G300S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	315					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGCCACCAAAGGCCCTGAGAA	0.562000													13	10					0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181754549	181754549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:181754549G>A	ENST00000526775.1	+	41	5782	c.5617G>A	c.(5617-5619)Gaa>Aaa	p.E1873K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1873K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1892K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1499K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1843K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1892K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1824K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1892					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCTGGAGGAACAGGTGAA	0.537000													3	4					0	0	0.004672	0	0
SPATA18	132671	broad.mit.edu	37	4	52943176	52943176	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:52943176C>T	ENST00000295213.4	+	7	1364	c.990C>T	c.(988-990)acC>acT	p.T330T	SPATA18_ENST00000419395.2_Silent_p.T298T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	330					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGCTGAGACCGTTCAGCGGA	0.622000													6	5					0	0	0.001168	0	0
ABCE1	6059	broad.mit.edu	37	4	146031360	146031360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:146031360C>T	ENST00000296577.4	+	6	1026	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	171	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATCAAACCTCAATATGTAGA	0.343000													34	31					0	0	0.002852	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923920	105923920	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:105923920G>T	ENST00000526793.1	-	3	1655	c.1496C>A	c.(1495-1497)gCa>gAa	p.A499E	KBTBD3_ENST00000534815.1_Missense_Mutation_p.A420E|KBTBD3_ENST00000531837.1_Missense_Mutation_p.A499E	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	495										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AATTAATGTTGCATGAAAAAA	0.348000													9	7					3.09899e-07	3.96582e-07	0.004482	1	0
CSMD2	114784	broad.mit.edu	37	1	34190255	34190255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34190255C>T	ENST00000373381.4	-	18	2922	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	876	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGACGCTGTCCATTTACTGGG	0.542000													11	30					0	0	0.000673	0	0
CENPT	80152	broad.mit.edu	37	16	67865711	67865711	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:67865711G>A	ENST00000562787.1	-	8	1017	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	CENPT_ENST00000564817.1_Silent_p.L157L|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.L157L|CENPT_ENST00000440851.2_Silent_p.L157L|CENPT_ENST00000445712.2_Silent_p.L54L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	157					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GACAGTCTCAGCCTCTGTTTC	0.597000													12	10					0	0	0.000978	0	0
RC3H2	54542	broad.mit.edu	37	9	125617595	125617595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125617595G>A	ENST00000373670.1	-	14	3283	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	RC3H2_ENST00000357244.2_Missense_Mutation_p.P895S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P895S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	895						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCACTAAAGGGAATTATTGGA	0.433000													24	18					0	0	0.003954	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264281	25264281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:25264281G>A	ENST00000328086.7	-	3	1467	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GACCCAGCAGGAAGCCGTGTG	0.493000													36	166					0	0	0.006230	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465569	70465569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70465569C>T	ENST00000373998.1	-	17	3470	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	ZMYM3_ENST00000314425.5_Missense_Mutation_p.E937K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.E937K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E939K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E939K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	937					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAATCATTTCTGCCATAGCC	0.527000													4	22					0	0	0.000248	0	0
SUSD3	203328	broad.mit.edu	37	9	95846965	95846965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:95846965C>T	ENST00000375472.3	+	5	740	c.704C>T	c.(703-705)cCc>cTc	p.P235L	SUSD3_ENST00000375469.1_Missense_Mutation_p.P222L	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	235						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCAGACAGCCCCTGCCTGCC	0.637000													52	18					0	0	0.003610	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937700	15937700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:15937700C>T	ENST00000382333.1	-	3	850	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	FGFBP1_ENST00000259988.2_Missense_Mutation_p.V186M	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	186					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GTCTGGGTCACTGCTAGGCTA	0.552000													40	33					0	0	0.001951	0	0
PLCB4	5332	broad.mit.edu	37	20	9317845	9317845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9317845G>A	ENST00000378501.2	+	2	172	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E53K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E53K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E53K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E53K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E53K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	53					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGAGAAGTGAAGGCAAGGT	0.418000													21	24					0	0	0.001882	0	0
GMNN	51053	broad.mit.edu	37	6	24781782	24781782	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:24781782C>T	ENST00000230056.3	+	4	539	c.207C>T	c.(205-207)gtC>gtT	p.V69V	GMNN_ENST00000356509.3_Silent_p.V69V	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	69					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GGGTTATTGTCCCAGAATCTA	0.368000													27	4					0	0	0.007291	0	0
GRID2	2895	broad.mit.edu	37	4	94411870	94411870	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:94411870T>A	ENST00000282020.4	+	12	2197	c.1939T>A	c.(1939-1941)Tct>Act	p.S647T	GRID2_ENST00000510992.1_Missense_Mutation_p.S552T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	647					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGTTATCTCATCTTACACGGC	0.443000													8	11					0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57417763	57417763	+	Silent	SNP	C	C	T	rs148088012		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57417763C>T	ENST00000543257.1	-	6	1034	c.468G>A	c.(466-468)acG>acA	p.T156T	C8B_ENST00000535057.1_Silent_p.T146T|C8B_ENST00000371237.4_Silent_p.T208T	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	208	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTAAACCTCGTGTTCAGGA	0.512000													14	50					0	0	0.004007	0	0
NPHS1	4868	broad.mit.edu	37	19	36334409	36334409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36334409G>A	ENST00000378910.5	-	17	2298	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P767S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	767	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGAGGATGGGATTGGCATCG	0.572000													26	111					0	0	0.003954	0	0
TMEM130	222865	broad.mit.edu	37	7	98449090	98449090	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98449090G>A	ENST00000450876.1	-	6	2023	c.708C>T	c.(706-708)atC>atT	p.I236I	TMEM130_ENST00000546258.1_Silent_p.I301I|TMEM130_ENST00000345589.4_Silent_p.I218I|TMEM130_ENST00000416379.2_Silent_p.I320I|TMEM130_ENST00000339375.4_Silent_p.I320I			Q8N3G9	TM130_HUMAN	transmembrane protein 130	320						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTGCTGATGATATTCTCGG	0.592000													13	70					0	0	0.001855	0	0
CATSPERD	257062	broad.mit.edu	37	19	5766155	5766155	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:5766155C>T	ENST00000381624.3	+	17	1609	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	CATSPERD_ENST00000381614.2_Silent_p.I174I|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	516						integral to membrane											ATAAAAAGATCGTCATCCAGA	0.537000													24	14					0	0	0.003954	0	0
EBF2	64641	broad.mit.edu	37	8	25747300	25747300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:25747300C>T	ENST00000520164.1	-	8	1256	c.719G>A	c.(718-720)gGa>gAa	p.G240E	EBF2_ENST00000408929.3_Missense_Mutation_p.G92E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	240					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGCTCTCCGTCCATGCTTGGA	0.463000													8	35					0	0	0.003080	0	0
RARS	5917	broad.mit.edu	37	5	167919667	167919667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:167919667C>T	ENST00000231572.3	+	3	238	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	62	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCTACAGAGTCTTCAGGCAGA	0.343000													12	20					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179586793	179586793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179586793C>T	ENST00000589042.1	-	78	22821	c.22597G>A	c.(22597-22599)Gat>Aat	p.D7533N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7216N|TTN_ENST00000342992.6_Missense_Mutation_p.D6289N|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7216	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCAAAATCAGCACTTTCT	0.413000													31	54					0	0	0.001786	0	0
MED13	9969	broad.mit.edu	37	17	60062045	60062045	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:60062045C>T	ENST00000397786.2	-	14	2734	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACAGAATCCCTCATCAACCT	0.318000													38	6					0	0	0.002852	0	0
KIF21B	23046	broad.mit.edu	37	1	200969077	200969077	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:200969077G>A	ENST00000332129.2	-	12	2017	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	KIF21B_ENST00000360529.5_Silent_p.A567A|KIF21B_ENST00000461742.2_Silent_p.A567A|KIF21B_ENST00000422435.2_Silent_p.A567A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	567					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTTTTTGAAGGCTTCCTTCT	0.622000													43	40					0	0	0.007835	0	0
PRKG2	5593	broad.mit.edu	37	4	82013576	82013576	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:82013576C>T	ENST00000395578.1	-	18	2273	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	PRKG2_ENST00000545647.1_Silent_p.L299L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.L690L|PRKG2_ENST00000264399.1_Silent_p.L719L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	719	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCGTGCTTTCAGTCCCTCCC	0.383000													15	26					0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668361	176668361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:176668361C>T	ENST00000367662.3	+	8	4036	c.2872C>T	c.(2872-2874)Caa>Taa	p.Q958*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	958					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGCTCTTCCAACACCCGGT	0.572000													25	56					0	0	0.003330	0	0
AMICA1	120425	broad.mit.edu	37	11	118071218	118071218	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:118071218C>T	ENST00000292067.7	-	6	1293	c.852G>A	c.(850-852)ttG>ttA	p.L284L	AMICA1_ENST00000526620.1_Silent_p.L255L|AMICA1_ENST00000533261.1_Silent_p.L283L|AMICA1_ENST00000356289.5_Silent_p.L294L	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	294					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCACGATCAATATCAGAA	0.552000													13	23					0	0	0.002450	0	0
SNTG1	54212	broad.mit.edu	37	8	51449367	51449367	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:51449367C>T	ENST00000522124.1	+	11	1340	c.680_splice	c.e11+1	p.R227_splice	SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATTTGAGTCGGTGAGTCCG	0.443000													19	74					0	0	0.001523	0	0
CSTF1	1477	broad.mit.edu	37	20	54972861	54972861	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:54972861C>T	ENST00000217109.4	+	4	961	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	203					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGATTATTCCAAACCATCAG	0.363000													14	51					0	0	0.001855	0	0
QSER1	79832	broad.mit.edu	37	11	32955313	32955313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:32955313C>T	ENST00000399302.2	+	4	2457	c.2122C>T	c.(2122-2124)Cca>Tca	p.P708S	QSER1_ENST00000527788.1_Missense_Mutation_p.P469S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	708	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GATTCAAATTCCAAATCATGC	0.403000													16	22					0	0	0.004007	0	0
ARAP2	116984	broad.mit.edu	37	4	36126533	36126533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:36126533G>A	ENST00000303965.4	-	22	4186	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1233	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGACCCCTGGAAGAGAACGT	0.368000													9	5					0	0	0.001368	0	0
ACR	49	broad.mit.edu	37	22	51178327	51178327	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:51178327C>T	ENST00000216139.5	+	3	527	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	ACR_ENST00000529621.1_Silent_p.L163L	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	163	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGCTGCCTGCCCCACTT	0.572000													80	36					0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539651	48539651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:48539651C>T	ENST00000396577.3	+	13	1893	c.1678C>T	c.(1678-1680)Ctt>Ttt	p.L560F	SLC12A1_ENST00000558405.1_Missense_Mutation_p.L560F|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L560F	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	560					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCATTTATTCTTATTGGTTT	0.318000													6	19					0	0	0.001168	0	0
IGHM	3507	broad.mit.edu	37	14	106320631	106320631	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106320631G>A	ENST00000390559.2	-	0	1178																											TGCTGTGGGCGAAGTACCGGC	0.647000													7	24					0	0	0.004482	0	0
OPA3	80207	broad.mit.edu	37	19	46032360	46032360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:46032360C>T	ENST00000323060.3	-	2	574	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	165					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGGCGGGTCTCGGAGGCAGAG	0.687000													24	32					0	0	0.003954	0	0
FER1L5	90342	broad.mit.edu	37	2	97363282	97363282	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:97363282G>A	ENST00000457909.1	+	0	3606							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TACCTCTACAGAAAGTTCTGG	0.562000													11	15					0	0	0.001855	0	0
WT1	7490	broad.mit.edu	37	11	32439129	32439129	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:32439129A>G	ENST00000332351.3	-	4	1228	c.944T>C	c.(943-945)tTa>tCa	p.L315S	WT1_ENST00000379079.2_Missense_Mutation_p.L103S|WT1_ENST00000448076.3_Missense_Mutation_p.L315S|WT1_ENST00000530998.1_Missense_Mutation_p.L103S	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	247					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTACCCCTTTAAGGTGGCTCC	0.373000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				12	16					0	0	0.001855	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175935	207175935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207175935C>T	ENST00000374423.3	+	5	7069	c.6683C>T	c.(6682-6684)tCg>tTg	p.S2228L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGTATATTTCGAAATACTCT	0.358000													9	15					0	0	0.004482	0	0
HTR2C	3358	broad.mit.edu	37	X	114141608	114141608	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:114141608T>A	ENST00000276198.1	+	6	1735	c.1007T>A	c.(1006-1008)cTt>cAt	p.L336H	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L336H	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	336					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGTCTGTTCTTTGTGAGAAG	0.373000													35	42					0	0	0.004878	0	0
KCNT2	343450	broad.mit.edu	37	1	196398861	196398861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196398861C>T	ENST00000367433.5	-	9	766	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R222Q|KCNT2_ENST00000294725.8_Missense_Mutation_p.R222Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	222						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTTCCTATTCGTTCCAGATG	0.378000													5	4					0	0	0.001168	0	0
FAM131B	9715	broad.mit.edu	37	7	143054461	143054461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143054461C>T	ENST00000409408.1	-	5	2146	c.438G>A	c.(436-438)atG>atA	p.M146I	FAM131B_ENST00000409578.1_Missense_Mutation_p.M162I|FAM131B_ENST00000409222.3_Missense_Mutation_p.M146I|FAM131B_ENST00000443739.2_Missense_Mutation_p.M174I|FAM131B_ENST00000409346.1_Missense_Mutation_p.M146I			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	146										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTCACCATCCATGGAAGACC	0.517000													86	32					0	0	0.003610	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100550946	100550946	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:100550946C>T	ENST00000397112.4	-	0	1981					NR_036632.1															large_intestine(1)|lung(3)	4						GCCCTACCTTCACCTCTCCCT	0.627000													16	8					0	0	0.004007	0	0
GLI3	2737	broad.mit.edu	37	7	42005576	42005576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:42005576G>A	ENST00000395925.3	-	15	3179	c.3095C>T	c.(3094-3096)cCc>cTc	p.P1032L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1032					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CATCGCCGGGGGGTTGCAGCT	0.706000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	28					0	0	0.003080	0	0
GDF3	9573	broad.mit.edu	37	12	7843051	7843051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:7843051G>A	ENST00000329913.3	-	2	565	c.518C>T	c.(517-519)cCa>cTa	p.P173L		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	173					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTGTGGCCATGGGACTGACCG	0.527000													49	13					0	0	0.003610	0	0
NEFH	4744	broad.mit.edu	37	22	29885807	29885807	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:29885807G>A	ENST00000310624.6	+	4	2211	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	732	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTCCCCAGTGAAGGAAGAAG	0.557000													75	56					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28722066	28722066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28722066G>A	ENST00000257197.3	-	9	1417	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P386S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	386	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGAGTGAGGAGTGTTTGGC	0.373000													28	10					0	0	0.005443	0	0
AMELX	265	broad.mit.edu	37	X	11316691	11316691	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:11316691C>T	ENST00000380712.3	+	6	278	c.210C>T	c.(208-210)ccC>ccT	p.P70P	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.P40P|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Silent_p.P56P	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	56					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GTTACGAGCCCATGGGTGGAT	0.567000													25	69					0	0	0.006320	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590830	234590830	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:234590830C>T	ENST00000373426.3	+	1	247	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCATACACTCTGGAGGATCA	0.498000													52	54					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141764221	141764221	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141764221C>T	ENST00000475668.2	+	37	4437	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T	MGAM_ENST00000549489.2_Silent_p.T1461T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1461	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGCAAGACCCTTTGTATGG	0.562000													6	7					0	0	0.003080	0	0
FRY	10129	broad.mit.edu	37	13	32811687	32811687	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:32811687C>T	ENST00000380250.3	+	44	6478	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCGACCGATCCTCTGACCCAC	0.557000													8	21					0	0	0.003080	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379479	19379479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19379479C>T	ENST00000338883.4	-	28	3834	c.3835G>A	c.(3835-3837)Gat>Aat	p.D1279N	PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.D714N|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D1111N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1279							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TATCTTAGATCTTCCTTAGTG	0.363000													8	28					0	0	0.004482	0	0
EIF2B3	8891	broad.mit.edu	37	1	45341351	45341351	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:45341351G>T	ENST00000360403.2	-	9	1118	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	EIF2B3_ENST00000372183.3_Missense_Mutation_p.S331Y	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	331					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAGAGAGCAGACAGCAATTT	0.512000													15	50					1.67942e-08	2.15222e-08	0.006122	1	0
LPHN2	23266	broad.mit.edu	37	1	82456075	82456075	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:82456075G>A	ENST00000370728.1	+	25	4271	c.3625_splice	c.e25-1	p.G1209_splice	LPHN2_ENST00000370721.1_Splice_Site_p.G1134_splice|LPHN2_ENST00000370727.1_Splice_Site_p.G1181_splice|LPHN2_ENST00000370730.1_Splice_Site_p.G1166_splice|LPHN2_ENST00000370713.1_Splice_Site_p.D1121_splice|LPHN2_ENST00000271029.4_Splice_Site_p.G1181_splice|LPHN2_ENST00000335786.5_Splice_Site_p.G1166_splice|LPHN2_ENST00000370723.1_Splice_Site_p.G1211_splice|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Splice_Site_p.G1153_splice|LPHN2_ENST00000359929.3_Splice_Site_p.G1153_splice|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Splice_Site_p.G1211_splice|LPHN2_ENST00000370725.1_Splice_Site_p.G1224_splice|LPHN2_ENST00000370717.2_Splice_Site_p.G1224_splice			O95490	LPHN2_HUMAN	latrophilin 2	1209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTGTTTCAGGACATTCACTG	0.398000													22	22					0	0	0.003954	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195094	18195094	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18195094C>T	ENST00000314254.3	+	1	711	c.291C>T	c.(289-291)atC>atT	p.I97I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCGCAAAATCCTCGTTTCTG	0.522000													20	31					0	0	0.007413	0	0
SFN	2810	broad.mit.edu	37	1	27190040	27190040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:27190040G>A	ENST00000339276.4	+	1	408	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	113					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GGAGGCCGGGGACGCCGAGAG	0.632000													29	21					0	0	0.001512	0	0
MAGED1	9500	broad.mit.edu	37	X	51644984	51644984	+	Silent	SNP	C	C	T	rs149192593		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:51644984C>T	ENST00000375695.2	+	13	2616	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	MAGED1_ENST00000375772.3_Silent_p.F765F|MAGED1_ENST00000326587.7_Silent_p.F765F|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.F765F	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	765					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTGCCAACTTCGCTGCCAACT	0.527000										Multiple Myeloma(10;0.10)			4	21					0	0	0.000248	0	0
EPC1	80314	broad.mit.edu	37	10	32576187	32576187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:32576187G>A	ENST00000319778.6	-	7	1293	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F	EPC1_ENST00000263062.8_Missense_Mutation_p.L331F|EPC1_ENST00000375110.2_Missense_Mutation_p.L281F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	331					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTCGGATAAGATCGGCTTTA	0.418000													14	19					0	0	0.002450	0	0
GPX5	2880	broad.mit.edu	37	6	28501821	28501821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:28501821G>A	ENST00000412168.2	+	5	632	c.543G>A	c.(541-543)tgG>tgA	p.W181*	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	181					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACATCCGTTGGAACTTTGAAA	0.522000													91	12					0	0	0.003610	0	0
OR10T2	128360	broad.mit.edu	37	1	158368629	158368629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158368629C>T	ENST00000334438.1	-	1	627	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAAAAGGCACCATAATTACC	0.463000													10	20					0	0	0.006214	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532663	80532663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:80532663C>T	ENST00000373212.5	+	2	484	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	76						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				AAGCCAGTATCGCGGGGTAAG	0.403000													3	9					0	0	0.004672	0	0
CASQ1	844	broad.mit.edu	37	1	160165306	160165306	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:160165306C>T	ENST00000368079.3	+	5	890	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CASQ1_ENST00000368078.3_Silent_p.F211F	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	211						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCTTCTTCGCCACCTTCG	0.547000													15	39					0	0	0.004007	0	0
DAGLA	747	broad.mit.edu	37	11	61511320	61511320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61511320G>A	ENST00000257215.5	+	20	2604	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	830					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATCCCCGAGGAAAACCCATC	0.667000													54	97					0	0	0.003610	0	0
RET	5979	broad.mit.edu	37	10	43610163	43610163	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:43610163C>T	ENST00000355710.3	+	11	2347	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	RET_ENST00000340058.5_Silent_p.S705S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	705					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCAGGTCTCCGTGGATGCCT	0.677000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	9					0	0	0.000673	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514124	113514124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:113514124G>A	ENST00000541405.1	-	4	852	c.329C>T	c.(328-330)tCa>tTa	p.S110L	CKAP2L_ENST00000302450.6_Missense_Mutation_p.S275L			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	275						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AACCGTCCTTGAGGGTTTTAC	0.398000													46	52					0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347604	140347604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140347604C>T	ENST00000289269.5	+	1	1785	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		418	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGAAACTCCTATACACTG	0.582000													48	45					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11039003	11039003	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:11039003G>A	ENST00000470054.1	-	0	1200									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTTGGTATGAAACATCTTT	0.393000													19	182					0	0	0.007413	0	0
CR1	1378	broad.mit.edu	37	1	207796381	207796381	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:207796381C>T	ENST00000367049.4	+	45	7320	c.7320C>T	c.(7318-7320)ttC>ttT	p.F2440F	CR1_ENST00000367053.1_Silent_p.F1990F|CR1_ENST00000400960.2_Silent_p.F1990F|CR1_ENST00000367051.1_Silent_p.F1990F|CR1_ENST00000367052.1_Silent_p.F1990F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1990					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCATCATTTTCCTCTCTTGGA	0.333000													7	2					0	0	0.000673	0	0
MROH2B	133558	broad.mit.edu	37	5	41009507	41009507	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41009507C>T	ENST00000399564.4	-	32	3745	c.3293_splice	c.e32-1	p.D1099_splice	MROH2B_ENST00000506092.2_Splice_Site_p.D654_splice	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTCTTTGTGTCCCTAGGGTGG	0.463000													30	68					0	0	0.002445	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854324	12854324	+	Missense_Mutation	SNP	G	G	A	rs141259766		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12854324G>A	ENST00000332296.7	+	3	651	c.548G>A	c.(547-549)aGt>aAt	p.S183N		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	183										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCTGTAGTAAGCTGGTC	0.403000													123	143					0	0	0.003610	0	0
C11orf63	79864	broad.mit.edu	37	11	122775031	122775031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:122775031G>A	ENST00000227349.2	+	3	1040	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	C11orf63_ENST00000531316.1_Missense_Mutation_p.R248Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.R248Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	248										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGCCCTCGGCGAAGGAAATCC	0.468000													33	59					0	0	0.003271	0	0
TENM3	55714	broad.mit.edu	37	4	183714623	183714623	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:183714623G>A	ENST00000511685.1	+	26	6921	c.6798G>A	c.(6796-6798)tcG>tcA	p.S2266S	TENM3_ENST00000406950.2_Silent_p.S2266S					teneurin transmembrane protein 3																		ACAACCATTCGAGTTCAGAAA	0.413000													19	16					0	0	0.001216	0	0
GPR12	2835	broad.mit.edu	37	13	27332999	27332999	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:27332999G>A	ENST00000405846.3	-	2	1187	c.966C>T	c.(964-966)tcC>tcT	p.S322S	GPR12_ENST00000381436.2_Silent_p.S322S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	322						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGCGAGACTGGACGGGATGC	0.547000													31	20					0	0	0.002096	0	0
USP31	57478	broad.mit.edu	37	16	23117550	23117550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:23117550G>A	ENST00000219689.7	-	4	936	c.937C>T	c.(937-939)Cct>Tct	p.P313S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGGGCAGAGGAATTGGCAAA	0.393000													17	32					0	0	0.001216	0	0
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	AACTTTCCCCGAAGTACAGGT	0.468000													27	16					0	0	0.005443	0	0
OR4X1	390113	broad.mit.edu	37	11	48285814	48285814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:48285814G>A	ENST00000320048.1	+	1	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGCCATCATGAACCAGCGAA	0.557000													9	25					0	0	0.000673	0	0
TLN1	7094	broad.mit.edu	37	9	35699391	35699391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:35699391G>A	ENST00000314888.9	-	51	7189	c.6836C>T	c.(6835-6837)tCc>tTc	p.S2279F	TLN1_ENST00000540444.1_Missense_Mutation_p.S2167F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2279					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCAGTGACGGAACCAGCCAC	0.562000													29	12					0	0	0.002445	0	0
TMEM74	157753	broad.mit.edu	37	8	109796454	109796454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:109796454C>T	ENST00000297459.3	-	2	1052	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	292					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.E292*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAGGACAGTTCCAGAGTGTTT	0.403000													21	16					0	0	0.002780	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517377	140517377	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140517377C>T	ENST00000231134.5	+	1	2578	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGCTGCCTTCCGGAATA	0.468000													67	48					0	0	0.003610	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806574	100806574	+	Silent	SNP	C	C	T	rs138338989		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:100806574C>T	ENST00000323346.5	+	10	1526	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Silent_p.L355L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	405					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.L405M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AACCTTACTCCTGGTGGTTGG	0.423000													65	15					0	0	0.003610	0	0
DMBX1	127343	broad.mit.edu	37	1	46978015	46978015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:46978015G>A	ENST00000371956.4	+	4	1013	c.998G>A	c.(997-999)gGt>gAt	p.G333D	DMBX1_ENST00000360032.3_Missense_Mutation_p.G328D	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	333					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCCCACCAGGGTGTGTGGGGG	0.642000													10	19					0	0	0.006214	0	0
RANBP17	64901	broad.mit.edu	37	5	170668103	170668103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:170668103C>T	ENST00000523189.1	+	23	2758	c.2594C>T	c.(2593-2595)gCt>gTt	p.A865V	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	865					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTACTCCAGGCTTTTGTCAAA	0.433000			T	TRD@	ALL								54	52					0	0	0.003610	0	0
BTBD11	121551	broad.mit.edu	37	12	107713182	107713182	+	Silent	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:107713182C>A	ENST00000280758.5	+	1	993	c.465C>A	c.(463-465)gcC>gcA	p.A155A	BTBD11_ENST00000490090.2_Silent_p.A155A|BTBD11_ENST00000420571.2_Silent_p.A155A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	155						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCTTCGCCAAGTGCACCA	0.692000													4	2					1.23904e-05	1.5804e-05	0.000602	1	0
CHD6	84181	broad.mit.edu	37	20	40033600	40033600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:40033600G>A	ENST00000373233.3	-	37	7958	c.7781C>T	c.(7780-7782)tCt>tTt	p.S2594F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2594					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGACTGATCAGAAAATGGACC	0.473000													88	107					0	0	0.003610	0	0
TBX20	57057	broad.mit.edu	37	7	35288308	35288308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:35288308C>T	ENST00000408931.3	-	3	1052	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	176						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AACGGCGGGTCGGCCTTGCCA	0.532000													32	13					0	0	0.002836	0	0
NAIP	4671	broad.mit.edu	37	5	70308571	70308571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:70308571G>A	ENST00000517649.1	-	4	462	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.R58C|NAIP_ENST00000508426.2_Missense_Mutation_p.R58C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	58					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTTCACTGCGCATTTGAGAG	0.483000													32	131					0	0	0.004289	0	0
DSG4	147409	broad.mit.edu	37	18	28968867	28968867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28968867G>A	ENST00000359747.4	+	5	432	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E135K|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	135	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCACGGGGTGAAGATTTAGA	0.388000													27	6					0	0	0.007291	0	0
NFAM1	150372	broad.mit.edu	37	22	42783016	42783016	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:42783016G>A	ENST00000329021.5	-	5	769	c.732C>T	c.(730-732)gcC>gcT	p.A244A		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	244					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GGCTCTGCTTGGCGGTGGGTG	0.632000													20	98					0	0	0.001882	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849183	18849183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:18849183G>A	ENST00000266505.7	-	11	1455	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	PLCZ1_ENST00000538330.1_Missense_Mutation_p.H180Y|PLCZ1_ENST00000435379.1_Missense_Mutation_p.H203Y|PLCZ1_ENST00000541695.1_Missense_Mutation_p.H261Y|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.H205Y|PLCZ1_ENST00000447925.2_Missense_Mutation_p.H396Y			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	398	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCTGGTGTGAAAAATAAAC	0.269000													4	1					0	0	0.001168	0	0
SMS	6611	broad.mit.edu	37	X	21985355	21985355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:21985355C>T	ENST00000404933.2	+	2	343	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_5'UTR|SMS_ENST00000379404.1_Nonsense_Mutation_p.Q31*	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	31					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GTCCATTTTCCAGGAGCAGGG	0.527000													10	34					0	0	0.006214	0	0
GGT7	2686	broad.mit.edu	37	20	33451191	33451191	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:33451191G>A	ENST00000336431.5	-	2	374	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677000													22	32					0	0	0.003954	0	0
IFI44L	10964	broad.mit.edu	37	1	79094005	79094005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:79094005G>A	ENST00000370751.4	+	2	584	c.405G>A	c.(403-405)atG>atA	p.M135I	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	135						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TAGATAAAATGATAACAAGAA	0.308000													6	15					0	0	0.001168	0	0
HCN1	348980	broad.mit.edu	37	5	45645412	45645412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:45645412C>T	ENST00000303230.4	-	2	781	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	242						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAATCCATTCCTTTTTCTACA	0.373000													11	10					0	0	0.000978	0	0
NES	10763	broad.mit.edu	37	1	156639958	156639958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156639958C>T	ENST00000368223.3	-	4	4154	c.4022G>A	c.(4021-4023)gGc>gAc	p.G1341D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1341	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTCAAGGCCCTCGGAAGC	0.637000													26	53					0	0	0.004656	0	0
MYH11	4629	broad.mit.edu	37	16	15872688	15872688	+	Missense_Mutation	SNP	G	G	A	rs150759461	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:15872688G>A	ENST00000338282.6	-	7	845	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	MYH11_ENST00000300036.5_Missense_Mutation_p.R247C|MYH11_ENST00000576790.1_Missense_Mutation_p.R247C|MYH11_ENST00000396324.3_Missense_Mutation_p.R254C|MYH11_ENST00000452625.2_Missense_Mutation_p.R254C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	247	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTGATGCGGATGAATTTG	0.552000			T	CBFB	AML								26	27					0	0	0.001786	0	0
PTPRD	5789	broad.mit.edu	37	9	8460539	8460539	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:8460539G>A	ENST00000381196.4	-	30	4290	c.3747C>T	c.(3745-3747)ccC>ccT	p.P1249P	PTPRD_ENST00000355233.5_Silent_p.P838P|PTPRD_ENST00000397606.3_Silent_p.P828P|PTPRD_ENST00000397611.3_Silent_p.P835P|PTPRD_ENST00000397617.3_Silent_p.P828P|PTPRD_ENST00000360074.4_Silent_p.P1236P|PTPRD_ENST00000540109.1_Silent_p.P1249P|PTPRD_ENST00000537002.1_Silent_p.P835P|PTPRD_ENST00000358503.5_Silent_p.P1227P|PTPRD_ENST00000486161.1_Silent_p.P838P|PTPRD_ENST00000356435.5_Silent_p.P1249P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACACCACGGGGTCGGAGT	0.438000										TSP Lung(15;0.13)			18	4					0	0	0.001523	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066614	9066614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:9066614G>A	ENST00000382496.5	-	17	2883	c.2218C>T	c.(2218-2220)Ccg>Tcg	p.P740S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	740	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.P740A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCAAATTCGGATCAGCCAGG	0.557000													67	65					0	0	0.003610	0	0
CLDN20	49861	broad.mit.edu	37	6	155597436	155597436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:155597436G>A	ENST00000367165.3	+	2	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	195					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCTAGACTCGACCCACCCAC	0.408000													33	6					0	0	0.002836	0	0
SRCAP	10847	broad.mit.edu	37	16	30750429	30750429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30750429C>T	ENST00000262518.4	+	34	9453	c.9068C>T	c.(9067-9069)cCc>cTc	p.P3023L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2865L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2961L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3023	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCAGCTCCCCGTCTTGGAC	0.607000													37	34					0	0	0.006230	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647725	51647725	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51647725C>T	ENST00000317643.6	+	2	565	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	166	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTTCCAGAATCTGACCTGCTC	0.632000													64	48					0	0	0.003610	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880411	15880411	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15880411G>A	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							ATCTCTTTAGGATCGCGGTCC	0.557000													7	39					0	0	0.001984	0	0
INPPL1	3636	broad.mit.edu	37	11	71946937	71946937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:71946937C>T	ENST00000298229.2	+	25	2990	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	INPPL1_ENST00000538751.1_Missense_Mutation_p.S687F|INPPL1_ENST00000541756.1_Missense_Mutation_p.S687F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	929					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCCGCTCTCCAGGTTATTT	0.652000													24	35					0	0	0.002780	0	0
ABCA8	10351	broad.mit.edu	37	17	66915539	66915539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:66915539G>A	ENST00000269080.2	-	13	1828	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	ABCA8_ENST00000586539.1_Missense_Mutation_p.P564L|ABCA8_ENST00000430352.2_Missense_Mutation_p.P564L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	564	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTGGATTGTGGACAAACTCC	0.388000													74	7					0	0	0.003610	0	0
REG3G	130120	broad.mit.edu	37	2	79253891	79253891	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79253891C>T	ENST00000272324.5	+	3	313	c.129C>T	c.(127-129)ggC>ggT	p.G43G	REG3G_ENST00000409471.1_Silent_p.G43G|REG3G_ENST00000393897.2_Silent_p.G43G	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	43					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCCAAAGGCTCCAAGGCCT	0.527000													10	5					0	0	0.006214	0	0
SLC25A14	9016	broad.mit.edu	37	X	129483303	129483303	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:129483303C>T	ENST00000543953.1	+	4	340	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SLC25A14_ENST00000361980.5_Silent_p.F129F|SLC25A14_ENST00000339231.3_Silent_p.F129F|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000218197.5_Silent_p.F132F|SLC25A14_ENST00000545805.1_Silent_p.F132F			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	132					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGCGCTTATTCGTAGAACGTT	0.373000													13	23					0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98039340	98039340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:98039340C>T	ENST00000370192.3	-	11	1415	c.1315G>A	c.(1315-1317)Ggt>Agt	p.G439S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	439					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAACTGAACCAAAGGCACTG	0.423000													9	38					0	0	0.004482	0	0
ANO10	55129	broad.mit.edu	37	3	43602842	43602842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:43602842G>A	ENST00000292246.3	-	9	1516	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ANO10_ENST00000451430.2_Missense_Mutation_p.S338F|ANO10_ENST00000396091.3_Missense_Mutation_p.S383F|ANO10_ENST00000414522.2_Missense_Mutation_p.S449F|ANO10_ENST00000350459.4_Missense_Mutation_p.S259F	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	449					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGGAAGAAAAGATTCCATAAT	0.413000													12	27					0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11725780G>A	ENST00000262442.3	+	47	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000													62	18					0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19471576	19471576	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19471576C>T	ENST00000396229.2	+	6	1817	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TMC5_ENST00000541464.1_Silent_p.S356S|TMC5_ENST00000381414.4_Silent_p.S356S|TMC5_ENST00000219821.5_Silent_p.S110S|TMC5_ENST00000564959.1_Silent_p.S18S|TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000542583.2_Silent_p.S356S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	356						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAATCGCATCCCTTATACCCA	0.388000													6	28					0	0	0.001168	0	0
EPHB6	2051	broad.mit.edu	37	7	142564680	142564680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142564680C>T	ENST00000392957.2	+	11	2391	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	EPHB6_ENST00000411471.2_Missense_Mutation_p.S258F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S535F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	535	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAATCCCACTCCTTCACCCTG	0.657000													54	27					0	0	0.003610	0	0
KCNA5	3741	broad.mit.edu	37	12	5154958	5154958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:5154958G>A	ENST00000252321.3	+	1	1874	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	549						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCGGGGCTGGACAGAGGAGT	0.637000													41	6					0	0	0.002222	0	0
ABCC2	1244	broad.mit.edu	37	10	101611366	101611366	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:101611366A>T	ENST00000370449.4	+	32	4729	c.4616A>T	c.(4615-4617)aAt>aTt	p.N1539I		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1539						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCATTGAGAATGTGAACAGC	0.378000													25	17					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141765191	141765191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141765191C>T	ENST00000475668.2	+	38	4595	c.4541C>T	c.(4540-4542)cCc>cTc	p.P1514L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1514L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1514	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCACATTTCCCTCTTCTGGC	0.617000													4	7					0	0	0.000602	0	0
TRAV4	28689	broad.mit.edu	37	14	22205179	22205179	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22205179C>T	ENST00000390426.2	+	0	310																											CCCTGTTTATCCCTGCCGACA	0.498000													14	15					0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585844	82585844	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585844C>T	ENST00000423517.2	-	5	4762	c.4425G>A	c.(4423-4425)agG>agA	p.R1475R	PCLO_ENST00000333891.8_Silent_p.R1475R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1406					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTGTCTTTCCTTTCTTCTT	0.373000													7	43					0	0	0.003080	0	0
NPY2R	4887	broad.mit.edu	37	4	156135798	156135798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156135798C>T	ENST00000329476.3	+	2	1196	c.707C>T	c.(706-708)tCa>tTa	p.S236L	NPY2R_ENST00000506608.1_Missense_Mutation_p.S236L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	236					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGCATTATATCATTTTCCTAC	0.433000													35	30					0	0	0.003271	0	0
MVP	9961	broad.mit.edu	37	16	29841919	29841919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:29841919C>T	ENST00000357402.5	+	2	187	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	MVP_ENST00000395353.1_Missense_Mutation_p.H17Y|CTD-2574D22.6_ENST00000562285.1_3'UTR|MVP_ENST00000566554.1_3'UTR|MVP_ENST00000452209.2_5'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	17					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCACTATATCCATGTGCTGGA	0.577000													34	55					0	0	0.007835	0	0
FRG2B	441581	broad.mit.edu	37	10	135438890	135438890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135438890C>T	ENST00000443774.1	-	4	602	c.553G>A	c.(553-555)Gag>Aag	p.E185K	FRG2B_ENST00000425520.1_Missense_Mutation_p.E184K			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	184						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TAAACAGCCTCTGACATAGCT	0.577000													20	139					0	0	0.001882	0	0
DLG2	1740	broad.mit.edu	37	11	83195190	83195190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:83195190C>T	ENST00000398309.2	-	17	2430	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	DLG2_ENST00000543673.1_Missense_Mutation_p.E759K|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.E693K|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.E759K|DLG2_ENST00000531015.1_Missense_Mutation_p.E621K|DLG2_ENST00000418306.2_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	654						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCACTGGTTTCCTGCTCACTC	0.408000													7	16					0	0	0.001984	0	0
LAMB4	22798	broad.mit.edu	37	7	107738880	107738880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:107738880C>T	ENST00000388781.3	-	11	1411	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	LAMB4_ENST00000414450.2_Missense_Mutation_p.G443E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G443E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G443E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	443	Laminin EGF-like 3.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCGCTTAGTCCGTAGTGGTT	0.572000													17	35					0	0	0.006122	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340249	100340249	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:100340249C>T	ENST00000341853.1	-	0	677					NR_003260.1																						TATTTCTTCCCACGCGAGTCT	0.627000													6	32					0	0	0.001168	0	0
HTN1	3346	broad.mit.edu	37	4	70918837	70918837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:70918837C>T	ENST00000511674.1	+	2	115	c.44C>T	c.(43-45)tCc>tTc	p.S15F	HTN1_ENST00000246896.3_Missense_Mutation_p.S15F			P15515	HIS1_HUMAN	histatin 1	15					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						CTCATGATTTCCATGATTGTA	0.323000													9	8					0	0	0.004482	0	0
IL5RA	3568	broad.mit.edu	37	3	3144438	3144438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:3144438C>T	ENST00000446632.2	-	4	723	c.149G>A	c.(148-150)tGg>tAg	p.W50*	IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W50*|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W50*|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000418488.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000445864.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W50*	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATTTGGTTTCCATTGTAAAAG	0.338000													18	9					0	0	0.006122	0	0
MUC2	4583	broad.mit.edu	37	11	1086451	1086451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1086451C>T	ENST00000441003.2	+	23	3187	c.3160C>T	c.(3160-3162)Ctc>Ttc	p.L1054F	MUC2_ENST00000359061.5_Missense_Mutation_p.L1054F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1054	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGCAGCATCCTCAAAAGCAG	0.657000													5	5					0	0	0.000602	0	0
DZIP1	22873	broad.mit.edu	37	13	96293735	96293735	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:96293735G>A	ENST00000347108.3	-	3	843	c.411C>T	c.(409-411)ttC>ttT	p.F137F	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Silent_p.F137F|DZIP1_ENST00000361156.3_Silent_p.F137F|DZIP1_ENST00000361396.2_Silent_p.F137F			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	137					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCGAGGTGAGGAACTCTTGTG	0.632000													20	9					0	0	0.007413	0	0
VRTN	55237	broad.mit.edu	37	14	74824458	74824458	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:74824458C>T	ENST00000256362.4	+	2	1213	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	324					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGACAGCTTCCACCGGGGGG	0.637000													37	83					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	34130152	34130152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:34130152G>A	ENST00000389232.4	+	89	12041	c.11971G>A	c.(11971-11973)Ggg>Agg	p.G3991R	RYR3_ENST00000415757.3_Missense_Mutation_p.G3986R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3991					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGGACATAGGGTTTAATGT	0.433000													22	101					0	0	0.001523	0	0
C8B	732	broad.mit.edu	37	1	57399065	57399065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57399065C>T	ENST00000543257.1	-	11	1905	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	C8B_ENST00000535057.1_Missense_Mutation_p.E437K|C8B_ENST00000371237.4_Missense_Mutation_p.E499K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	499	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.E499K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAACTAACTTCCTTCTGGAAC	0.527000													29	22					0	0	0.007291	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072290	17072290	+	Missense_Mutation	SNP	C	C	T	rs141686687		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17072290C>T	ENST00000359963.3	-	1	1410	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	384					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTCCGCAGCCCCTGGGTGGT	0.567000													59	39					0	0	0.003610	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416266	1416266	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1416266G>A	ENST00000270349.9	-	7	1105	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SLC6A3_ENST00000453492.2_Silent_p.F326F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	326					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCAGCACCCCGAACCCCACGC	0.622000													31	22					0	0	0.003755	0	0
IL20	50604	broad.mit.edu	37	1	207039325	207039325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:207039325G>A	ENST00000367098.1	+	2	491	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	IL20_ENST00000391930.2_Missense_Mutation_p.R43Q|IL20_ENST00000367096.3_Missense_Mutation_p.R43Q			Q9NYY1	IL20_HUMAN	interleukin 20	43					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CAGGAAATACGAAATGGATTT	0.473000													25	35					0	0	0.003330	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442265	103442265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103442265G>A	ENST00000361246.2	-	10	1630	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	448					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCAGCCTCCGAATCCTCCTC	0.617000													49	73					0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26459367	26459367	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:26459367G>A	ENST00000265944.5	+	29	3463	c.3297G>A	c.(3295-3297)agG>agA	p.R1099R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1099	IQ 2.			R -> G (in Ref. 1 and 2).	protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCTTGTCAGGAAACAAAGAA	0.328000													6	13					0	0	0.001168	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845016	106845016	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106845016C>T	ENST00000276185.4	+	16	3846	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1282						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AACTGGAGTTCCTTGAGGAAC	0.577000													30	36					0	0	0.002096	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601288	138601288	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:138601288C>T	ENST00000251691.4	+	14	2614	c.2448C>T	c.(2446-2448)atC>atT	p.I816I		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	816					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCCCCTCATCACAATGCTGA	0.562000													27	1					0	0	0.006320	0	0
A4GALT	53947	broad.mit.edu	37	22	43089153	43089153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43089153C>T	ENST00000401850.1	-	2	1294	c.805G>A	c.(805-807)Gag>Aag	p.E269K	A4GALT_ENST00000249005.2_Missense_Mutation_p.E269K|A4GALT_ENST00000381278.3_Missense_Mutation_p.E269K			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	269					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCGCGGCTCTCGGCCAGGCTG	0.647000													8	2					0	0	0.000673	0	0
C6	729	broad.mit.edu	37	5	41159246	41159246	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41159246C>T	ENST00000263413.3	-	12	2058	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G	C6_ENST00000337836.5_Silent_p.G598G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	598	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGCGTTTCCCTCCTCGTT	0.498000													46	32					0	0	0.003610	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283563	151283563	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151283563G>A	ENST00000509345.2	-	0	773																											CTTTGCCGAAGATCACAGGAA	0.512000													43	49					0	0	0.003610	0	0
GLRB	2743	broad.mit.edu	37	4	158091583	158091583	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:158091583G>A	ENST00000264428.4	+	10	1467		c.e10-1		GLRB_ENST00000512619.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000541722.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTATTCTTAGGTTGGTGAGA	0.313000													8	10					0	0	0.000673	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955715	18955715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:18955715G>A	ENST00000302797.3	-	1	841	c.617C>T	c.(616-618)tCc>tTc	p.S206F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	206					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S206F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATCTTCCGGGATCCACAGAG	0.502000													9	18					0	0	0.000978	0	0
VCL	7414	broad.mit.edu	37	10	75854195	75854195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:75854195C>T	ENST00000211998.4	+	11	1613	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P507S|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	507	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GATTGATAATCCCACAGTGGA	0.517000													16	10					0	0	0.004007	0	0
C9orf135	138255	broad.mit.edu	37	9	72471545	72471545	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:72471545G>A	ENST00000377197.3	+	3	423	c.336G>A	c.(334-336)aaG>aaA	p.K112K	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Silent_p.K112K	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	112						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TGAAGAGCAAGGCTTTATTGA	0.358000													20	4					0	0	0.002299	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275705	130275705	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:130275705G>A	ENST00000257359.6	-	9	3124	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	806	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAGGAACAAAGAAGGTGTATT	0.577000													42	86					0	0	0.003610	0	0
SVIL	6840	broad.mit.edu	37	10	29813480	29813480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29813480C>T	ENST00000375398.2	-	16	2956	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	SVIL_ENST00000375400.3_Missense_Mutation_p.R410Q|SVIL_ENST00000355867.4_Missense_Mutation_p.R836Q			O95425	SVIL_HUMAN	supervillin	836					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TATTCTGTTCCGGGTAGAAAT	0.502000													13	47					0	0	0.001368	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174220	150174220	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150174220G>A	ENST00000307271.3	+	5	1924	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	450						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCGGGACTGGGAAGAGTGCGA	0.547000													26	34					0	0	0.005443	0	0
OR2A14	135941	broad.mit.edu	37	7	143826566	143826566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143826566C>T	ENST00000408899.2	+	1	416	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCCTATGATCGCTATGCGGA	0.488000													31	126					0	0	0.007291	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794652	124794652	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124794652C>T	ENST00000298251.4	-	2	804	c.399G>A	c.(397-399)ggG>ggA	p.G133G		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	133	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTCTTCTCCCCAGTGAAGG	0.567000													35	79					0	0	0.005524	0	0
MECOM	2122	broad.mit.edu	37	3	169099133	169099133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:169099133C>T	ENST00000494292.1	-	2	314	c.217G>A	c.(217-219)Gat>Aat	p.D73N	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	73							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGGGGATATCATCAGGGATG	0.473000													19	53					0	0	0.001216	0	0
CRB2	286204	broad.mit.edu	37	9	126129490	126129490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:126129490G>A	ENST00000373631.3	+	5	795	c.794G>A	c.(793-795)tGt>tAt	p.C265Y	CRB2_ENST00000359999.3_Missense_Mutation_p.C265Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	265	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGACGAGTGTGCATCGAGC	0.687000													60	7					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36873700	36873700	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36873700G>A	ENST00000429976.2	-	21	7489	c.7242C>T	c.(7240-7242)ttC>ttT	p.F2414F	TRANK1_ENST00000428977.2_Silent_p.F1864F|TRANK1_ENST00000301807.6_Silent_p.F1864F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2414					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGATGAACTGGAACTCCAGGA	0.512000													23	96					0	0	0.006320	0	0
SCN10A	6336	broad.mit.edu	37	3	38770123	38770123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770123C>T	ENST00000449082.2	-	15	2549	c.2550G>A	c.(2548-2550)tgG>tgA	p.W850*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	850					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTTCTCAATCCACTCTCCAC	0.517000													9	29					0	0	0.004482	0	0
OR10H3	26532	broad.mit.edu	37	19	15852753	15852753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15852753C>T	ENST00000305892.1	+	1	551	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGTGCTTTCCCTCTTGAAG	0.493000													23	73					0	0	0.002299	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334179	158334179	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:158334179C>T	ENST00000404321.2	-	1	119	c.120G>A	c.(118-120)caG>caA	p.Q40Q	PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389413.3_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCCTCGTCTGTGGACCTG	0.537000													91	35					0	0	0.003610	0	0
C17orf77	146723	broad.mit.edu	37	17	72588211	72588211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:72588211C>T	ENST00000392620.1	+	3	388	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S9F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	9						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTGTCATTTTCCCTGACATGT	0.468000													67	131					0	0	0.003610	0	0
GP5	2814	broad.mit.edu	37	3	194118166	194118166	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:194118166C>T	ENST00000401815.1	-	1	917	c.846G>A	c.(844-846)ccG>ccA	p.P282P	GP5_ENST00000323007.3_Silent_p.P282P			P40197	GPV_HUMAN	glycoprotein V (platelet)	282					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCACCCCCGGGAGCTCTG	0.637000													7	35					0	0	0.001984	0	0
MDC1	9656	broad.mit.edu	37	6	30671501	30671501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30671501G>A	ENST00000376406.3	-	10	6106	c.5459C>T	c.(5458-5460)tCa>tTa	p.S1820L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1556L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1820	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ATGTGGTGGTGAATCCATGGT	0.507000								Other conserved DNA damage response genes					129	32					0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	6971974	6971974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:6971974G>A	ENST00000389658.3	-	48	6874	c.6781C>T	c.(6781-6783)Cct>Tct	p.P2261S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2261	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P2261A(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCACAGCAGGAGATTTCTAA	0.413000													11	4					0	0	0.001368	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487804	73487804	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73487804C>T	ENST00000314256.7	+	14	1813	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	KIAA0195_ENST00000579208.1_Silent_p.S124S|KIAA0195_ENST00000375248.5_Silent_p.S483S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	473					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCTGGCTCCCTGAACAACA	0.622000													48	106					0	0	0.003610	0	0
RPL3L	6123	broad.mit.edu	37	16	2004098	2004098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2004098G>A	ENST00000268661.7	-	2	149	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTCCTCTTATGGGGCAGGAAG	0.682000													13	19					0	0	0.004007	0	0
RYR3	6263	broad.mit.edu	37	15	33858947	33858947	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:33858947C>T	ENST00000389232.4	+	12	1285	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	RYR3_ENST00000415757.3_Silent_p.S405S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	405					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGGAGTCCCAGGCTGCTC	0.532000													14	51					0	0	0.002450	0	0
EML1	2009	broad.mit.edu	37	14	100377902	100377902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:100377902C>T	ENST00000262233.6	+	13	1622	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C	EML1_ENST00000334192.4_Missense_Mutation_p.R514C|EML1_ENST00000327921.9_Missense_Mutation_p.R483C	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	495						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCAAAAACTTCGTAAAACGGA	0.368000													23	26					0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141607776	141607776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:141607776C>T	ENST00000389484.3	-	29	5805	c.4834G>A	c.(4834-4836)Gac>Aac	p.D1612N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1612					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATCGAAGTCTATCACAGTA	0.373000										TSP Lung(27;0.18)			23	50					0	0	0.003330	0	0
DNAJC17	55192	broad.mit.edu	37	15	41060239	41060239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:41060239C>T	ENST00000220496.4	-	11	844	c.814G>A	c.(814-816)Gac>Aac	p.D272N	DNAJC17_ENST00000558727.1_5'UTR	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	272					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTCGTAGTCCCTCTCTGAC	0.662000													49	25					0	0	0.003610	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825817	64825817	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64825817C>T	ENST00000358658.3	-	1	204	c.177G>A	c.(175-177)gaG>gaA	p.E59E	NAALADL1_ENST00000355721.3_Silent_p.E59E|NAALADL1_ENST00000355369.2_Silent_p.E59E|NAALADL1_ENST00000356632.3_Silent_p.E59E|NAALADL1_ENST00000339885.2_Silent_p.E59E|NAALADL1_ENST00000340252.4_Silent_p.E59E	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	59					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACCTGAGGTTCTCCCGGATCC	0.637000													6	27					0	0	0.001984	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359245	64359245	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64359245C>T	ENST00000377574.1	+	1	964	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	SLC22A12_ENST00000377567.2_Silent_p.L73L|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Silent_p.L73L|SLC22A12_ENST00000336464.7_Silent_p.L73L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	73					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGAGGCCCTCCTGGCTATTTC	0.692000													6	16					0	0	0.001168	0	0
UBR2	23304	broad.mit.edu	37	6	42637845	42637845	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:42637845G>A	ENST00000372901.1	+	35	4155	c.3897G>A	c.(3895-3897)gaG>gaA	p.E1299E	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Silent_p.E1299E			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1299					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTTATTCTGAGAGCATAAAAG	0.383000													22	4					0	0	0.002299	0	0
CNTN5	53942	broad.mit.edu	37	11	100211289	100211289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:100211289G>A	ENST00000524871.1	+	22	3115	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G942E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G942E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G868E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	942	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G942E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGATTAGAAGGAAATACGTTA	0.438000													4	4					0	0	0.000248	0	0
LAMB2	3913	broad.mit.edu	37	3	49161987	49161987	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:49161987G>A	ENST00000418109.1	-	23	3332	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C	LAMB2_ENST00000305544.4_Silent_p.C1056C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1056	Laminin EGF-like 11.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATCACAGTGGCACTGGTCAG	0.602000													10	23					0	0	0.006214	0	0
NBEA	26960	broad.mit.edu	37	13	35615076	35615076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:35615076G>A	ENST00000400445.3	+	2	835	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	NBEA_ENST00000379939.2_Missense_Mutation_p.G101S|NBEA_ENST00000540320.1_Missense_Mutation_p.G101S|NBEA_ENST00000310336.4_Missense_Mutation_p.G101S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	101						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCAGCTGGTTGGTGGAGAATT	0.368000													24	35					0	0	0.004656	0	0
C3	718	broad.mit.edu	37	19	6719374	6719374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6719374C>T	ENST00000245907.6	-	2	207	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	39					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGGTCTCCTCGCTCTCCAGC	0.582000													55	37					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166929121	166929121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:166929121G>A	ENST00000061240.2	+	7	1485	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TLL1_ENST00000513213.1_Missense_Mutation_p.E280K|TLL1_ENST00000507499.1_Missense_Mutation_p.E280K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	280	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGAAGATGGAGCCTGGAGA	0.413000													6	19					0	0	0.001984	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455134	187455134	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:187455134C>T	ENST00000307161.5	-	2	963	c.762G>A	c.(760-762)ctG>ctA	p.L254L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	254					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAATGAAGTTCAGAGGAGCCC	0.507000													23	22					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13886082	13886082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13886082C>T	ENST00000265104.4	-	18	2838	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	912	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAACTTTCATTTTTGTAA	0.308000									Kartagener syndrome				18	47					0	0	0.001216	0	0
EMR3	84658	broad.mit.edu	37	19	14752428	14752428	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:14752428C>T	ENST00000253673.5	-	10	1151	c.1050_splice	c.e10-1	p.E351_splice	EMR3_ENST00000599900.1_Splice_Site_p.E136_splice|EMR3_ENST00000344373.4_Splice_Site_p.E299_splice|EMR3_ENST00000443157.2_Splice_Site_p.E225_splice	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	351					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGATCCTCCTCCTGGGACCGA	0.562000													18	12					0	0	0.007413	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705059	77705059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77705059C>T	ENST00000298351.4	+	10	818	c.674C>T	c.(673-675)aCc>aTc	p.T225I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	225						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTAATGATCACCTATGTGCCC	0.463000													14	40					0	0	0.004990	0	0
GALNT15	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:16254145G>A	ENST00000339732.5	+	6	1770	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D423N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.D423Y(2)									CCAAAATCAGGATTCCCATTC	0.537000													20	43					0	0	0.007413	0	0
ZNF560	147741	broad.mit.edu	37	19	9578989	9578989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9578989C>T	ENST00000301480.4	-	10	847	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCATAGAGTTCCTCTCCATTT	0.363000													7	29					0	0	0.001984	0	0
GIF	2694	broad.mit.edu	37	11	59599244	59599244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:59599244C>T	ENST00000541311.1	-	8	1258	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S	GIF_ENST00000257248.2_Missense_Mutation_p.G367S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	367					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACGACAAGGCCCCAAGATGTC	0.383000													9	14					0	0	0.006214	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735228	31735228	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:31735228C>T	ENST00000342032.3	+	3	856	c.228C>T	c.(226-228)ttC>ttT	p.F76F	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	76					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TCCCACCTTTCATACCAGGTA	0.443000													15	63					0	0	0.004990	0	0
AMER3	205147	broad.mit.edu	37	2	131519860	131519860	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:131519860T>G	ENST00000423981.1	+	2	325	c.215T>G	c.(214-216)cTg>cGg	p.L72R	AMER3_ENST00000321420.4_Missense_Mutation_p.L72R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGGGCGCAGCTGGACCCCAAA	0.642000													10	4					0	0	0.006214	0	0
FRMPD3	84443	broad.mit.edu	37	X	106819631	106819631	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106819631G>A	ENST00000276185.4	+	14	1482	c.1482G>A	c.(1480-1482)agG>agA	p.R494R				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	494	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGGATTCCAGGAAGATGGTCT	0.587000													61	57					0	0	0.003610	0	0
LRRC17	10234	broad.mit.edu	37	7	102575032	102575032	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102575032C>T	ENST00000249377.4	+	2	953	c.672C>T	c.(670-672)ccC>ccT	p.P224P	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Silent_p.P224P|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	224					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACCCGAAACCCCAAGTGTCAG	0.418000													16	11					0	0	0.004007	0	0
GOLGA4	2803	broad.mit.edu	37	3	37379168	37379168	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37379168A>T	ENST00000361924.2	+	19	6713	c.6339A>T	c.(6337-6339)gcA>gcT	p.A2113A	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.A2128A	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2113					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGCTAGCACAGAAGACGA	0.373000													13	11					0	0	0.001368	0	0
HYDIN	54768	broad.mit.edu	37	16	71218876	71218876	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71218876G>A	ENST00000393567.2	-	3	303	c.153C>T	c.(151-153)ttC>ttT	p.F51F	HYDIN_ENST00000448089.2_Silent_p.F51F|HYDIN_ENST00000541601.1_Silent_p.F68F|HYDIN_ENST00000288168.10_Silent_p.F68F|HYDIN_ENST00000448691.1_Silent_p.F51F|HYDIN_ENST00000538248.1_Silent_p.F78F|HYDIN_ENST00000321489.5_Silent_p.F51F|HYDIN_ENST00000393550.2_Silent_p.F51F	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	51										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCCTTCAGGAACTCTGAGG	0.403000													13	5					0	0	0.001368	0	0
MYH4	4622	broad.mit.edu	37	17	10358010	10358010	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10358010C>T	ENST00000255381.2	-	22	2663	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	851					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCATCTCCTTCTCTGTCT	0.443000													50	19					0	0	0.003610	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468228	66468228	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:66468228C>T	ENST00000533211.1	-	17	3673	c.3342G>A	c.(3340-3342)gtG>gtA	p.V1114V	SPTBN2_ENST00000529997.1_Silent_p.V1114V|SPTBN2_ENST00000309996.2_Silent_p.V1114V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1114					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGCCCGCTCCACCTCTCCCC	0.692000													5	7					0	0	0.000602	0	0
TNXB	7148	broad.mit.edu	37	6	32049308	32049308	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:32049308G>A	ENST00000375244.3	-	10	4080	c.3879C>T	c.(3877-3879)gtC>gtT	p.V1293V	TNXB_ENST00000375247.2_Silent_p.V1293V			P22105	TENX_HUMAN	tenascin XB	1380	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGTACTGGACCATGAATG	0.617000													325	67					0	0	0.003610	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658504	72658504	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72658504G>A	ENST00000425256.1	-	0	1407					NR_002164.1																						catcgattgcgatagaatatg	0.453000													18	47					0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352301	38352301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:38352301C>T	ENST00000322350.5	+	5	759	c.413C>T	c.(412-414)tCc>tTc	p.S138F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.S138F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	138						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CACCTAGATTCCTGCCTGCCT	0.562000													23	68					0	0	0.004656	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793541	100793541	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:100793541G>T	ENST00000361529.3	+	4	239	c.161G>T	c.(160-162)cGg>cTg	p.R54L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	54					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTTCTACCGGGGCCTCTCG	0.677000													6	154					0.00307968	0.00390064	0.003080	1	0
ATF7	11016	broad.mit.edu	37	12	53994769	53994769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53994769G>A	ENST00000420353.2	-	2	165	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	ATF7_ENST00000548118.2_Missense_Mutation_p.P6S|ATF7_ENST00000548446.2_Missense_Mutation_p.P6S|ATF7_ENST00000456903.4_Missense_Mutation_p.P6S|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.P6S|ATF7_ENST00000591397.1_Missense_Mutation_p.P6S|ATF7_ENST00000328463.7_Missense_Mutation_p.P6S|ATF7_ENST00000415113.1_Missense_Mutation_p.P6S	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	6	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CACACAAACGGTCTGTCGTCT	0.418000													8	19					0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11778370	11778370	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11778370C>T	ENST00000262442.3	+	53	10415	c.10347C>T	c.(10345-10347)tcC>tcT	p.S3449S	DNAH9_ENST00000454412.2_Silent_p.S3449S|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3449	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGCATGTCCGTGGAGAATG	0.557000													29	24					0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38917251	38917251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38917251G>A	ENST00000359357.3	+	79	11756	c.11502G>A	c.(11500-11502)tgG>tgA	p.W3834*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3798*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W4051*|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGGGGTGGAAAAGCTGGT	0.373000													99	27					0	0	0.003610	0	0
LRP10	26020	broad.mit.edu	37	14	23346293	23346293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:23346293C>T	ENST00000359591.4	+	7	2390	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	567	Arg-rich.				endocytosis	coated pit|integral to membrane		p.P567S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGGCTTGCTCCCTCGAACCAA	0.687000													39	32					0	0	0.002222	0	0
CSF1R	1436	broad.mit.edu	37	5	149456918	149456918	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:149456918G>A	ENST00000286301.3	-	6	1101	c.810C>T	c.(808-810)ttC>ttT	p.F270F	CSF1R_ENST00000543093.1_Silent_p.F270F	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	270	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGGCATGTTGGAAATCTACTT	0.522000													41	42					0	0	0.007835	0	0
MYH15	22989	broad.mit.edu	37	3	108147366	108147366	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108147366G>A	ENST00000273353.3	-	28	3791	c.3735C>T	c.(3733-3735)acC>acT	p.T1245T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1245						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCAACACGGGTCAGGAGGT	0.512000													73	53					0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712504	187712504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:187712504G>A	ENST00000295131.2	-	2	223	c.184C>T	c.(184-186)Cac>Tac	p.H62Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	62					apoptosis		zinc ion binding	p.H62N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTACAAACGTGAGGATTTCCT	0.343000													28	31					0	0	0.001512	0	0
PREX2	80243	broad.mit.edu	37	8	69005939	69005939	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:69005939T>C	ENST00000288368.4	+	21	2627	c.2350T>C	c.(2350-2352)Ttt>Ctt	p.F784L	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	784					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGGGGATGCTTTTGACTGTAA	0.408000													30	29					0	0	0.002445	0	0
PPARA	5465	broad.mit.edu	37	22	46614211	46614211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:46614211C>T	ENST00000396000.2	+	5	686	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PPARA_ENST00000434345.2_Missense_Mutation_p.R141C|PPARA_ENST00000407236.1_Missense_Mutation_p.R141C|PPARA_ENST00000262735.5_Missense_Mutation_p.R141C|PPARA_ENST00000402126.1_Missense_Mutation_p.R141C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	141					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAGTGCGACCGCAGCTGCAA	0.483000													76	24					0	0	0.003610	0	0
CFHR2	3080	broad.mit.edu	37	1	196920049	196920049	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196920049T>C	ENST00000367415.4	+	3	435	c.321T>C	c.(319-321)ggT>ggC	p.G107G	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.G107G	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	107	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ATCTGGAAGGTGATACTGTAC	0.388000													20	24					0	0	0.001523	0	0
OBSCN	84033	broad.mit.edu	37	1	228547494	228547494	+	Missense_Mutation	SNP	C	C	T	rs139819384		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228547494C>T	ENST00000284548.11	+	81	18975	c.18901C>T	c.(18901-18903)Ccc>Tcc	p.P6301S	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.P3420S			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7124					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCGTGGTGCCCACACTGTA	0.692000													4	8					0	0	0.000602	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359326	64359326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64359326G>A	ENST00000377574.1	+	1	1045	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SLC22A12_ENST00000377567.2_Missense_Mutation_p.D100N|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D100N|SLC22A12_ENST00000336464.7_Missense_Mutation_p.D100N	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	100					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCAGCTCTTGGACCCCAATGC	0.662000													11	8					0	0	0.001368	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269109	30269109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30269109G>A	ENST00000378981.3	+	4	820	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MAGEB1_ENST00000397550.1_Missense_Mutation_p.E167K|MAGEB1_ENST00000397548.2_Missense_Mutation_p.E167K	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	167	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGATTTGAAGGAAGACAACCC	0.488000													9	5					0	0	0.006214	0	0
FRAS1	80144	broad.mit.edu	37	4	79396729	79396729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79396729G>A	ENST00000264895.6	+	54	8260	c.7820G>A	c.(7819-7821)gGg>gAg	p.G2607E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2602	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCAACCTGGGCAACAGGAC	0.602000													33	35					0	0	0.004878	0	0
LMTK2	22853	broad.mit.edu	37	7	97822951	97822951	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:97822951C>T	ENST00000297293.5	+	11	3467	c.3174C>T	c.(3172-3174)acC>acT	p.T1058T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1058					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AACCAGCCACCACGGGCGATG	0.617000													4	36					0	0	0.000602	0	0
SHROOM2	357	broad.mit.edu	37	X	9862717	9862717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:9862717G>A	ENST00000380913.3	+	4	859	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	257					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCGCAGGCGACCCTCAGGG	0.667000													9	7					0	0	0.004482	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													6	13					0	0	0.003080	0	0
ASB10	136371	broad.mit.edu	37	7	150883911	150883911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150883911G>A	ENST00000422024.1	-	1	567	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	ASB10_ENST00000275838.1_Missense_Mutation_p.R103C|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000420175.2_Missense_Mutation_p.R103C|ASB10_ENST00000434669.1_Missense_Mutation_p.R148C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	103					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGAGCACGGATGTTGAAG	0.632000													15	6					0	0	0.002450	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156988	26156988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:26156988G>A	ENST00000304218.3	+	1	430	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	124					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TAAAAAGGCAGGCGCGGCCAA	0.637000													18	4					0	0	0.007413	0	0
TMCC3	57458	broad.mit.edu	37	12	94976115	94976115	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:94976115A>T	ENST00000261226.4	-	2	409	c.278T>A	c.(277-279)gTt>gAt	p.V93D	TMCC3_ENST00000551457.1_Missense_Mutation_p.V62D	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	93						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATACTCCGCAACATTCCCATC	0.448000													79	16					0	0	0.003610	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432648	1432648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1432648C>T	ENST00000270349.9	-	4	711	c.584G>A	c.(583-585)gGt>gAt	p.G195D	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G195D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	195					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACTGGAGTCACCAGGATGGGC	0.597000													23	39					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238296652	238296652	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:238296652G>A	ENST00000295550.4	-	4	1337	c.885C>T	c.(883-885)tcC>tcT	p.S295S	COL6A3_ENST00000353578.4_Silent_p.S89S|COL6A3_ENST00000392004.3_Silent_p.S89S|COL6A3_ENST00000346358.4_Silent_p.S295S|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Silent_p.S89S|COL6A3_ENST00000347401.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	295	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGTCCAAGGAGAACATGG	0.547000													18	41					0	0	0.006122	0	0
TRPC3	7222	broad.mit.edu	37	4	122854038	122854038	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:122854038G>A	ENST00000264811.5	-	1	574	c.156C>T	c.(154-156)atC>atT	p.I52I	TRPC3_ENST00000379645.3_Silent_p.I125I|TRPC3_ENST00000513531.1_Silent_p.I52I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	40					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCACCACTGGGATGTTGCCGT	0.652000													10	29					0	0	0.000978	0	0
FAM162A	26355	broad.mit.edu	37	3	122123196	122123196	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122123196C>T	ENST00000477892.1	+	3	333	c.249C>T	c.(247-249)atC>atT	p.I83I	FAM162A_ENST00000232125.5_Silent_p.I73I|FAM162A_ENST00000469967.1_Silent_p.I83I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	83						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AAGATGAAATCCCAGAGACTG	0.413000													36	16					0	0	0.004878	0	0
SYT9	143425	broad.mit.edu	37	11	7334767	7334767	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:7334767G>A	ENST00000318881.6	+	3	876	c.639G>A	c.(637-639)ggG>ggA	p.G213G	SYT9_ENST00000396716.2_Silent_p.G181G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	213						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGATGACGGGAGACGGAGTA	0.388000													8	16					0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167142982	167142982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:167142982G>A	ENST00000375387.4	-	11	1809	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	SCN9A_ENST00000409435.1_Missense_Mutation_p.S489F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S489F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S490F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	489			S -> N.			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCTCCACTGGAGAGCTTCTT	0.418000													24	52					0	0	0.002780	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704940	23704940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:23704940G>A	ENST00000397312.2	-	4	737	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ELAVL2_ENST00000380117.1_Missense_Mutation_p.R155C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R155C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R155C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R184C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	155	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACAAGAATACGAGAAGTAATA	0.418000													50	15					0	0	0.003610	0	0
LIF	3976	broad.mit.edu	37	22	30639706	30639706	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:30639706C>T	ENST00000249075.3	-	3	698	c.543G>A	c.(541-543)aaG>aaA	p.K181K	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	181					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGCCCAGCTTCTTCTTCTGGA	0.572000													28	96					0	0	0.006320	0	0
OR5J2	282775	broad.mit.edu	37	11	55944788	55944788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55944788C>T	ENST00000312298.1	+	1	695	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CACTCAGCATCAGGCAGACAG	0.483000													15	29					0	0	0.002450	0	0
SDK2	54549	broad.mit.edu	37	17	71382048	71382048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:71382048C>T	ENST00000392650.3	-	32	4507	c.4507G>A	c.(4507-4509)Gaa>Aaa	p.E1503K	SDK2_ENST00000388726.3_Missense_Mutation_p.E1503K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1503	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGGTGCTTCATCGGGGGCT	0.612000													11	3					0	0	0.002450	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802980	185802980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:185802980C>T	ENST00000302277.6	+	4	3451	c.2857C>T	c.(2857-2859)Cag>Tag	p.Q953*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	953						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATTCCTTTTCAGGTGCCTAA	0.383000													33	35					0	0	0.002096	0	0
FLT3	2322	broad.mit.edu	37	13	28622446	28622446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:28622446G>A	ENST00000380982.4	-	9	1252	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	FLT3_ENST00000537084.1_Missense_Mutation_p.P391S|FLT3_ENST00000241453.7_Missense_Mutation_p.P391S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	391					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTCACAAGGAAATGATTTT	0.393000			"""Mis, O"""		"""AML, ALL"""								36	32					0	0	0.006999	0	0
RBBP5	5929	broad.mit.edu	37	1	205065952	205065952	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:205065952G>A	ENST00000264515.6	-	12	1395	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	RBBP5_ENST00000367164.1_Silent_p.P418P	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	418					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CATCCGGTGGGGGGCCGTAAG	0.502000													71	49					0	0	0.003610	0	0
HTRA1	5654	broad.mit.edu	37	10	124249007	124249007	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124249007G>A	ENST00000368984.3	+	3	770	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	214	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAGATGGACTGATCGTGACAA	0.493000													22	54					0	0	0.003330	0	0
MGAM	8972	broad.mit.edu	37	7	141754606	141754606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141754606C>T	ENST00000475668.2	+	27	3266	c.3212C>T	c.(3211-3213)cCc>cTc	p.P1071L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1071L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1071	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAACATACCCAGCATGCCA	0.438000													58	46					0	0	0.003610	0	0
DYM	54808	broad.mit.edu	37	18	46860172	46860172	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:46860172G>A	ENST00000269445.6	-	7	1003	c.546C>T	c.(544-546)ttC>ttT	p.F182F	DYM_ENST00000578396.1_Silent_p.F27F|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	182						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGCAGGAAAGGAAAACAACCA	0.358000													22	10					0	0	0.002299	0	0
SENP3	26168	broad.mit.edu	37	17	7468318	7468318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7468318C>T	ENST00000321337.7	+	4	1318	c.998C>T	c.(997-999)cCc>cTc	p.P333L	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.P333L	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	333					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCCTCATACCCCTCAGCACT	0.542000													16	5					0	0	0.001216	0	0
PTPRR	5801	broad.mit.edu	37	12	71094958	71094958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:71094958C>T	ENST00000283228.2	-	7	1605	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	PTPRR_ENST00000378778.1_Missense_Mutation_p.D179N|PTPRR_ENST00000440835.2_Missense_Mutation_p.D140N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D273N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D140N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	385					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCCACGACGTCCCTCAGCTGA	0.458000													30	4					0	0	0.002445	0	0
CAMK1G	57172	broad.mit.edu	37	1	209786148	209786148	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:209786148C>T	ENST00000009105.1	+	12	1604	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	CAMK1G_ENST00000361322.2_Silent_p.V453V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	453						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCGGAGGTCATGGTACCAG	0.517000													26	65					0	0	0.006320	0	0
PAPLN	89932	broad.mit.edu	37	14	73716730	73716730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:73716730G>A	ENST00000427855.1	+	6	475	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PAPLN_ENST00000555445.1_Missense_Mutation_p.E125K|PAPLN_ENST00000340738.5_Missense_Mutation_p.E125K|PAPLN_ENST00000381166.3_Missense_Mutation_p.E125K|PAPLN_ENST00000554301.1_Missense_Mutation_p.E125K			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	125						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCCAAGGGGGAGAACTTCTA	0.592000													21	16					0	0	0.002299	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092154	151092154	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151092154G>A	ENST00000370335.1	+	3	285	c.18G>A	c.(16-18)aaG>aaA	p.K6K	MAGEA4_ENST00000393920.1_Silent_p.K6K|MAGEA4_ENST00000276344.2_Silent_p.K6K|MAGEA4_ENST00000393921.1_Silent_p.K6K|MAGEA4_ENST00000370337.4_Silent_p.K6K|MAGEA4_ENST00000360243.2_Silent_p.K6K|MAGEA4_ENST00000370340.3_Silent_p.K6K			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	6							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGCAGAAGAGTCAGCACT	0.607000													30	27					0	0	0.007291	0	0
INTS1	26173	broad.mit.edu	37	7	1542610	1542610	+	Silent	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:1542610C>A	ENST00000389470.4	-	4	659	c.660G>T	c.(658-660)ctG>ctT	p.L220L	INTS1_ENST00000404767.3_Silent_p.L92L			Q8N201	INT1_HUMAN	integrator complex subunit 1	92					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGCCTCAGCCAGGCGCCCCA	0.612000													101	50					1.11883e-47	1.43925e-47	0.003610	1	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000													11	12					0	0	0.000673	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371860	42371860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:42371860C>T	ENST00000290472.3	-	13	1286	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	398	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GAAAAGACCTCCAGCTTGCTC	0.662000													35	13					0	0	0.003755	0	0
DCAF6	55827	broad.mit.edu	37	1	168032874	168032874	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:168032874C>T	ENST00000367840.3	+	18	2410	c.2316C>T	c.(2314-2316)gcC>gcT	p.A772A	DCAF6_ENST00000432587.2_Silent_p.A741A|DCAF6_ENST00000367843.3_Silent_p.A701A|DCAF6_ENST00000312263.6_Silent_p.A681A	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	681					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGCTGTTGCCCGTATTCAGG	0.299000													5	6					0	0	0.000602	0	0
GUCA2B	2981	broad.mit.edu	37	1	42621240	42621240	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:42621240G>A	ENST00000372581.1	+	3	342	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	104					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGTGTGTGAACGTTGCGT	0.627000													16	49					0	0	0.001523	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875210	45875210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:45875210G>A	ENST00000311275.7	-	14	2019	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	ZMYND8_ENST00000461685.1_Missense_Mutation_p.S609L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S537L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S616L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S589L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S584L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S609L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S584L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S584L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S526L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S589L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S589L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S609L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	589							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGAATCCTCCGAATCGCTGTG	0.423000													71	88					0	0	0.003610	0	0
SOBP	55084	broad.mit.edu	37	6	107854792	107854792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:107854792G>A	ENST00000317357.5	+	4	1210	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	184							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCTGCCGACGAGCCTACTTC	0.572000													62	11					0	0	0.003610	0	0
ELN	2006	broad.mit.edu	37	7	73474513	73474513	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:73474513C>T	ENST00000252034.7	+	24	2019	c.1621_splice	c.e24+1	p.L540_splice	ELN_ENST00000380584.4_Intron|ELN_ENST00000380553.4_Splice_Site_p.L404_splice|ELN_ENST00000429192.1_Splice_Site_p.L526_splice|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Splice_Site_p.L516_splice|ELN_ENST00000380562.4_Splice_Site_p.L546_splice|ELN_ENST00000357036.5_Splice_Site_p.L545_splice|ELN_ENST00000358929.4_Splice_Site_p.L575_splice|ELN_ENST00000380576.5_Splice_Site_p.L521_splice|ELN_ENST00000380575.4_Splice_Site_p.L511_splice|ELN_ENST00000458204.1_Splice_Site_p.L530_splice|ELN_ENST00000445912.1_Splice_Site_p.L540_splice|ELN_ENST00000320399.6_Splice_Site_p.L540_splice|ELN_ENST00000320492.7_Splice_Site_p.L459_splice	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	569	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AAGCCCAGCTCCGTGAGTGCC	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						21	110					0	0	0.003330	0	0
KCNH7	90134	broad.mit.edu	37	2	163250911	163250911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163250911C>T	ENST00000332142.5	-	12	2797	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	900					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCTCTCCTTCACTTTCAAAT	0.343000													5	8					0	0	0.001168	0	0
ZAN	7455	broad.mit.edu	37	7	100377269	100377269	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100377269C>T	ENST00000542585.1	+	0	6664				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.F2172F(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTGTGAGTTCGGAGGTCTCT	0.652000													8	0					0	0	0.006214	0	0
PTPRR	5801	broad.mit.edu	37	12	71094984	71094984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:71094984C>T	ENST00000283228.2	-	7	1579	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PTPRR_ENST00000378778.1_Missense_Mutation_p.R170Q|PTPRR_ENST00000440835.2_Missense_Mutation_p.R131Q|PTPRR_ENST00000342084.4_Missense_Mutation_p.R264Q|PTPRR_ENST00000549308.1_Missense_Mutation_p.R131Q	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	376					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGTGAGAATTCGGCTGGCTGA	0.463000													26	8					0	0	0.006320	0	0
IMPG1	3617	broad.mit.edu	37	6	76640707	76640707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:76640707C>T	ENST00000369950.3	-	15	2395	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	736					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCTCGCATTCCTTTGTGCCA	0.562000													53	8					0	0	0.003610	0	0
GRID1	2894	broad.mit.edu	37	10	87373164	87373164	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:87373164C>T	ENST00000327946.7	-	15	2686	c.2601_splice	c.e15+1	p.E867_splice	GRID1_ENST00000536331.1_Splice_Site_p.E438_splice	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	867						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGTGCTGACCTCCTTGGGGG	0.607000										Multiple Myeloma(13;0.14)			8	23					0	0	0.003080	0	0
FAM47C	442444	broad.mit.edu	37	X	37029438	37029438	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37029438C>T	ENST00000358047.3	+	1	3007	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	985										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTAAGGATTTCATTCTAAGCA	0.448000													51	45					0	0	0.003610	0	0
ENPP3	5169	broad.mit.edu	37	6	131971266	131971266	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:131971266T>C	ENST00000414305.1	+	4	582	c.254T>C	c.(253-255)tTt>tCt	p.F85S	ENPP3_ENST00000543135.1_Missense_Mutation_p.F51S|ENPP3_ENST00000357639.3_Missense_Mutation_p.F85S|ENPP3_ENST00000358229.5_Missense_Mutation_p.F85S|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.F51S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	85	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TGCTGGGATTTTGAAGACACC	0.403000													35	48					0	0	0.007835	0	0
ACSF3	197322	broad.mit.edu	37	16	89187307	89187307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:89187307G>A	ENST00000317447.4	+	7	1602	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	ACSF3_ENST00000406948.3_Missense_Mutation_p.E409K|ACSF3_ENST00000378345.4_Missense_Mutation_p.E144K	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	409					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGAGGGAGACGAGAGGGGGAC	0.617000													45	21					0	0	0.002852	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232206	32232206	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:32232206C>T	ENST00000346541.3	+	12	2106	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	CBFA2T2_ENST00000359606.3_Silent_p.I533I|CBFA2T2_ENST00000543126.1_Silent_p.I71I|CBFA2T2_ENST00000342704.5_Silent_p.I514I|CBFA2T2_ENST00000397800.1_Silent_p.I494I|CBFA2T2_ENST00000375279.2_Silent_p.I523I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	523						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTGCAATATCGCGCGATACT	0.612000													61	85					0	0	0.003610	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12856020C>T	ENST00000332296.7	+	4	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R189W	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.562000													25	133					0	0	0.005524	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252194	145252194	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:145252194A>G	ENST00000377976.1	-	1	336		c.e1+1			NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2											breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CACAATACCAACCTTATGGTC	0.488000													5	24					0	0	0.000602	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036049	57036049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:57036049C>T	ENST00000371149.3	-	4	1533	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	APCDD1L_ENST00000439429.1_Missense_Mutation_p.G446S	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	435						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGACTTGAGCCATCGGTGGGC	0.617000													106	110					0	0	0.003610	0	0
ZNF571	51276	broad.mit.edu	37	19	38056630	38056630	+	Missense_Mutation	SNP	G	G	A	rs140590185	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:38056630G>A	ENST00000328550.2	-	4	799	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R234C|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R234C|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R234C|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAACCACGAATAAAAGCT	0.368000													4	31					0	0	0.001168	0	0
COL8A2	1296	broad.mit.edu	37	1	36565053	36565053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:36565053C>T	ENST00000397799.1	-	4	453	c.229G>A	c.(229-231)Gga>Aga	p.G77R	COL8A2_ENST00000481785.1_Missense_Mutation_p.G12R|COL8A2_ENST00000303143.4_Missense_Mutation_p.G77R			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	77	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGGCTCTCCCTTCAGGTCC	0.652000													4	2					0	0	0.000602	0	0
BCAM	4059	broad.mit.edu	37	19	45321793	45321793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45321793G>A	ENST00000391955.1	+	9	1137	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	BCAM_ENST00000270233.6_Missense_Mutation_p.E365K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	365	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGACCCCCTGGAGCTCAGCGA	0.627000													20	70					0	0	0.001882	0	0
PKD1	5310	broad.mit.edu	37	16	2160599	2160599	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2160599G>A	ENST00000262304.4	-	15	4777	c.4569C>T	c.(4567-4569)ttC>ttT	p.F1523F	PKD1_ENST00000423118.1_Silent_p.F1523F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1523	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCTAACGGTGAAGTCACCTG	0.677000													25	55					0	0	0.002780	0	0
GAB4	128954	broad.mit.edu	37	22	17472821	17472821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17472821C>T	ENST00000400588.1	-	2	527	c.420G>A	c.(418-420)atG>atA	p.M140I	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	140	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCCACTCATTCATGTCCTCCC	0.517000													154	57					0	0	0.003610	0	0
MTOR	2475	broad.mit.edu	37	1	11199426	11199426	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:11199426G>A	ENST00000361445.4	-	36	5141	c.5065C>T	c.(5065-5067)Ctg>Ttg	p.L1689L	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1689	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACTGTTGGCAGAGGATGGTCA	0.463000													74	51					0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29296861	29296861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29296861C>T	ENST00000331664.5	-	1	266	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	89					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCAGTCCTTCCATATCTTTCC	0.502000													43	75					0	0	0.003214	0	0
MUC16	94025	broad.mit.edu	37	19	9086722	9086722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9086722C>T	ENST00000397910.4	-	1	5296	c.5093G>A	c.(5092-5094)gGa>gAa	p.G1698E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G1698E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACTCTTCCTAATGACTG	0.483000													35	30					0	0	0.003755	0	0
PROKR2	128674	broad.mit.edu	37	20	5294827	5294827	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:5294827G>A	ENST00000546004.1	-	2	435	c.189C>T	c.(187-189)atC>atT	p.I63I	PROKR2_ENST00000217270.3_Silent_p.I63I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGACCAGCATGATGCCTGCCA	0.527000										HNSCC(71;0.22)			58	94					0	0	0.003610	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009385	58009385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:58009385C>T	ENST00000286494.4	+	12	1589	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.R416*|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	377	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCCCGAGGTCGAGAGAGGCG	0.552000													50	8					0	0	0.003610	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250436	140250436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140250436C>T	ENST00000398640.2	+	1	1748	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGCGGTCGGTGGGTGCG	0.667000													57	70					0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428000										HNSCC(3;0.000094)			58	75					0	0	0.003610	0	0
ZNF624	57547	broad.mit.edu	37	17	16527671	16527671	+	Silent	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:16527671T>G	ENST00000311331.7	-	6	620	c.529A>C	c.(529-531)Aga>Cga	p.R177R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTTGTAATCTCAATATCCTA	0.358000													53	9					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25302060	25302060	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25302060G>A	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							TGAACAAAATGAGTGAGAACT	0.512000													49	45					0	0	0.003610	0	0
LMOD3	56203	broad.mit.edu	37	3	69168225	69168225	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69168225G>A	ENST00000420581.2	-	2	1460	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	LMOD3_ENST00000489031.1_Silent_p.P427P|LMOD3_ENST00000475434.1_Silent_p.P427P	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	427						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACATCCCAGGGGGCAGCCCCA	0.537000													27	22					0	0	0.006320	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915871	77915871	+	Silent	SNP	G	G	A	rs150703060	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:77915871G>A	ENST00000310924.2	-	11	2158	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	TBC1D16_ENST00000576768.1_Silent_p.L306L|TBC1D16_ENST00000340848.7_Silent_p.L319L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	681						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCGGAGAACGAGCTCCCCGT	0.657000													14	30					0	0	0.004990	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716540	94716540	+	Missense_Mutation	SNP	G	G	A	rs149950607		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:94716540G>A	ENST00000304338.3	+	15	1797	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	548						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCGGCTTCACGAACTCTATGC	0.353000													12	15					0	0	0.002450	0	0
CALB2	794	broad.mit.edu	37	16	71418266	71418266	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71418266C>T	ENST00000302628.4	+	8	635	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	186	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGGAAAACTTCCTGCTTAAAT	0.562000													19	18					0	0	0.002299	0	0
SAMD5	389432	broad.mit.edu	37	6	147830197	147830197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:147830197G>A	ENST00000367474.1	+	1	135	c.133G>A	c.(133-135)Ggg>Agg	p.G45R		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	45	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGATGCCATCGGGGTGCTGGC	0.692000													19	3					0	0	0.006122	0	0
PANX1	24145	broad.mit.edu	37	11	93913321	93913321	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:93913321C>T	ENST00000227638.3	+	4	1484	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	PANX1_ENST00000436171.2_Silent_p.L367L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	367					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATGCTACTCCTGACAAACCT	0.473000													8	14					0	0	0.003080	0	0
PYCR1	5831	broad.mit.edu	37	17	79892616	79892616	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79892616G>A	ENST00000337943.5	-	5	988	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PYCR1_ENST00000403172.4_Intron|PYCR1_ENST00000577756.1_Silent_p.F182F|PYCR1_ENST00000329875.8_Silent_p.F182F|PYCR1_ENST00000402252.2_Silent_p.F209F	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	182					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCAGGGCTGTGAATGCCTGTG	0.647000													8	3					0	0	0.003080	0	0
DONSON	29980	broad.mit.edu	37	21	34958483	34958483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:34958483G>A	ENST00000453626.1	-	3	411	c.407C>T	c.(406-408)tCa>tTa	p.S136L	DONSON_ENST00000303071.5_Missense_Mutation_p.S136L|AP000304.12_ENST00000429238.1_Silent_p.F97F|DONSON_ENST00000303113.6_Missense_Mutation_p.S136L|DONSON_ENST00000432378.1_Missense_Mutation_p.S136L			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	136					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGATACATGTGAAGTCTTTAG	0.358000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	15					0	0	0.003080	0	0
CDH18	1016	broad.mit.edu	37	5	19483537	19483537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:19483537G>A	ENST00000506372.1	-	12	2160	c.1649C>T	c.(1648-1650)cCa>cTa	p.P550L	CDH18_ENST00000502796.1_Missense_Mutation_p.P549L|CDH18_ENST00000274170.4_Silent_p.T585T|CDH18_ENST00000507958.1_Silent_p.T585T|CDH18_ENST00000382275.1_Silent_p.T585T			Q13634	CAD18_HUMAN	cadherin 18, type 2	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAACCCTGATGGTGAGGGTGC	0.537000													18	19					0	0	0.004990	0	0
CYBB	1536	broad.mit.edu	37	X	37664342	37664342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37664342G>A	ENST00000378588.4	+	10	1302	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	CYBB_ENST00000536160.1_Missense_Mutation_p.G145E|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.G380E	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	412					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCAGGGATTGGGGTCACACCC	0.483000													4	8					0	0	0.001168	0	0
NPY2R	4887	broad.mit.edu	37	4	156135319	156135319	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156135319C>T	ENST00000329476.3	+	2	717	c.228C>T	c.(226-228)atC>atT	p.I76I	NPY2R_ENST00000506608.1_Silent_p.I76I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	76					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGTGGTGATCAAATTCAAGA	0.453000													18	13					0	0	0.006122	0	0
TECTA	7007	broad.mit.edu	37	11	120989117	120989117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120989117C>T	ENST00000392793.1	+	7	1164	c.893C>T	c.(892-894)tCc>tTc	p.S298F	TECTA_ENST00000264037.2_Missense_Mutation_p.S298F			O75443	TECTA_HUMAN	tectorin alpha	298	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGGAGGCTTCCTGTAGCCCC	0.547000													12	20					0	0	0.001368	0	0
NOBOX	135935	broad.mit.edu	37	7	144099034	144099034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:144099034C>T	ENST00000467773.1	-	3	219	c.220G>A	c.(220-222)Gat>Aat	p.D74N	NOBOX_ENST00000483238.1_Missense_Mutation_p.D74N|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	74					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCTAAGGGATCATGTTGGGGC	0.507000													10	64					0	0	0.000673	0	0
FAM53C	51307	broad.mit.edu	37	5	137681191	137681191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:137681191C>T	ENST00000239906.5	+	4	1242	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	FAM53C_ENST00000434981.2_Missense_Mutation_p.R272C|FAM53C_ENST00000513056.1_Silent_p.A81A	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	272										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCGAAGCCGCTCACAGCC	0.657000													40	34					0	0	0.006999	0	0
OR13C3	138803	broad.mit.edu	37	9	107298152	107298152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107298152C>T	ENST00000374781.2	-	1	985	c.943G>A	c.(943-945)Ggg>Agg	p.G315R		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTCACTACCCCATAAAACAGA	0.373000													35	13					0	0	0.003755	0	0
CACNA1I	8911	broad.mit.edu	37	22	40076988	40076988	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40076988C>T	ENST00000336649.4	+	37	5613	c.5613C>T	c.(5611-5613)tcC>tcT	p.S1871S	CACNA1I_ENST00000404898.1_Silent_p.S1830S|CACNA1I_ENST00000407673.1_Silent_p.S1830S|CACNA1I_ENST00000401624.1_Silent_p.S1865S|CACNA1I_ENST00000400164.3_Silent_p.S1830S|CACNA1I_ENST00000402142.3_Silent_p.S1865S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1865					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTCCTCGTCCATCCTGCTGG	0.657000													42	22					0	0	0.001951	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981533	61981533	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61981533G>A	ENST00000370263.4	-	5	1451	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	410					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CATCCAGGGGGACACAGAAGG	0.697000													6	8					0	0	0.001984	0	0
RETSAT	54884	broad.mit.edu	37	2	85578056	85578056	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:85578056G>A	ENST00000295802.4	-	3	556	c.444C>T	c.(442-444)ccC>ccT	p.P148P	RETSAT_ENST00000263854.6_Silent_p.P148P|RETSAT_ENST00000457495.2_Silent_p.P87P	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	148					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GAGAGGACAGGGGAGCCCAGT	0.532000													25	26					0	0	0.003954	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529376	5529376	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5529376G>A	ENST00000311659.4	-	2	1560	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	471										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCTCAGGGATTCCAGGAA	0.547000													14	28					0	0	0.002450	0	0
PTPRN2	5799	broad.mit.edu	37	7	157388004	157388004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:157388004C>T	ENST00000389413.3	-	16	2438	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	PTPRN2_ENST00000389418.4_Missense_Mutation_p.D808N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.D791N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D831N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D770N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	808	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCGTGATCCATCTGCAGA	0.542000													38	10					0	0	0.005524	0	0
MBD5	55777	broad.mit.edu	37	2	149226637	149226637	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:149226637C>T	ENST00000407073.1	+	9	2122	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	MBD5_ENST00000404807.1_Silent_p.I375I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	375	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCCTGTTATCATTAATCCAA	0.413000													29	41					0	0	0.001512	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528539	77528539	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:77528539G>A	ENST00000373304.3	-	3	997	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	235					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TCACGACCATGATCATTCCTA	0.318000													7	18					0	0	0.001984	0	0
CRB1	23418	broad.mit.edu	37	1	197396826	197396826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:197396826G>A	ENST00000367397.1	+	3	1372	c.514G>A	c.(514-516)Gga>Aga	p.G172R	CRB1_ENST00000367400.3_Missense_Mutation_p.G791R|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.G679R|CRB1_ENST00000535699.1_Missense_Mutation_p.G722R|CRB1_ENST00000544212.1_Missense_Mutation_p.G272R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	791	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTTAATGATGGAAATGTCCA	0.368000													5	12					0	0	0.000602	0	0
OR6C70	390327	broad.mit.edu	37	12	55863651	55863651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55863651G>A	ENST00000327335.4	-	1	271	c.272C>T	c.(271-273)tCc>tTc	p.S91F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACCATTACAGGAAATGGTCTT	0.383000													19	3					0	0	0.006122	0	0
TRIM71	131405	broad.mit.edu	37	3	32932655	32932655	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:32932655C>T	ENST00000383763.4	+	4	2022	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	653					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCAGTTCGACCGACCAG	0.632000													12	22					0	0	0.001368	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815203	89815203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:89815203G>A	ENST00000509384.1	-	3	442	c.295C>T	c.(295-297)Cga>Tga	p.R99*	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000315948.6_Silent_p.T118T			Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	0					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AAAGTGTTTCGGTCAAGGAAC	0.383000													17	17					0	0	0.006122	0	0
NUDT7	283927	broad.mit.edu	37	16	77769830	77769830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:77769830C>T	ENST00000268533.5	+	3	364	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.L99F|NUDT7_ENST00000568787.1_Missense_Mutation_p.L99F	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	99	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GGAAGTGGGTCTCCGTCCTCA	0.572000													22	10					0	0	0.001523	0	0
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:63533929G>A	ENST00000307078.5	-	6	1538	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F	AXIN2_ENST00000375702.5_Missense_Mutation_p.L409F	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	409	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				7	0					0	0	0.003080	0	0
TRPV6	55503	broad.mit.edu	37	7	142573565	142573565	+	Silent	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142573565G>C	ENST00000359396.3	-	7	1100	c.855C>G	c.(853-855)tcC>tcG	p.S285S		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	285					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATCCCCTGAGGAGTCGATCT	0.562000													22	104					0	0	0.001523	0	0
ARX	170302	broad.mit.edu	37	X	25033674	25033674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:25033674C>T	ENST00000379044.4	-	1	391	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	61						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						ACGGCCTTTTCCGGGTCGGCG	0.627000													7	19					0	0	0.004482	0	0
RET	5979	broad.mit.edu	37	10	43596017	43596017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:43596017G>A	ENST00000355710.3	+	2	416	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RET_ENST00000340058.5_Missense_Mutation_p.E62K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	62					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCCCCTGAGGAGGTGCCCAG	0.632000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	21					0	0	0.006122	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071934	17071934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17071934C>T	ENST00000359963.3	-	1	1766	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	503					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCTCGAAATCCTTGGGCTTTG	0.512000													113	62					0	0	0.003610	0	0
PLD3	23646	broad.mit.edu	37	19	40883978	40883978	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40883978G>A	ENST00000409587.1	+	13	1768	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	PLD3_ENST00000409735.4_Silent_p.R457R|PLD3_ENST00000409281.1_Silent_p.R457R|PLD3_ENST00000356508.5_Silent_p.R457R|PLD3_ENST00000409419.1_Silent_p.R457R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	457					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCGGCCTGCGGAGCCAGCTGG	0.632000													86	45					0	0	0.003610	0	0
HKDC1	80201	broad.mit.edu	37	10	71021021	71021021	+	Silent	SNP	C	C	T	rs148312270		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:71021021C>T	ENST00000354624.5	+	16	2476	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	HKDC1_ENST00000395086.2_Silent_p.F781F	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	781					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGCATCTTCGAAACCAAGT	0.562000													14	18					0	0	0.006122	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313582	233313582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233313582G>A	ENST00000258229.8	-	17	3473	c.3239C>T	c.(3238-3240)gCt>gTt	p.A1080V	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A213V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1080						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGAGGGTCAGCAGCTGACTC	0.433000													21	15					0	0	0.003954	0	0
CADPS2	93664	broad.mit.edu	37	7	121985671	121985671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:121985671C>T	ENST00000334010.7	-	26	3984	c.3563G>A	c.(3562-3564)cGa>cAa	p.R1188Q	RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R1149Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.R1149Q|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.R1190Q|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1190					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCTTTTCTCGAAGAATATC	0.368000													7	64					0	0	0.001984	0	0
DAXX	1616	broad.mit.edu	37	6	33289050	33289050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33289050G>A	ENST00000374542.5	-	3	706	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	DAXX_ENST00000266000.6_Missense_Mutation_p.P168S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.P93S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	168					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTGTGGGGTCCAAGGAG	0.592000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								30	49					0	0	0.006320	0	0
MUC5B	727897	broad.mit.edu	37	11	1269230	1269230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1269230G>A	ENST00000447027.1	+	31	11187	c.11129G>A	c.(11128-11130)gGa>gAa	p.G3710E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G3707E|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3707	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGTCCACTGGATCCACGGCC	0.662000													36	46					0	0	0.003610	0	0
OR4C6	219432	broad.mit.edu	37	11	55432975	55432975	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55432975C>T	ENST00000314259.3	+	1	362	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGGGATCATCCTCCTCACTG	0.537000													10	12					0	0	0.006214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323993	79323993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79323993G>A	ENST00000428286.1	-	8	3320	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1066F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1066					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCCTCCATGGAGATATTCTT	0.453000													30	32					0	0	0.002836	0	0
CGREF1	10669	broad.mit.edu	37	2	27327256	27327256	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27327256G>A	ENST00000404694.3	-	1	349	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAACAAGGAAGAGAATCA	0.557000													7	16					0	0	0.001984	0	0
ATP2B2	491	broad.mit.edu	37	3	10413714	10413714	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:10413714G>A	ENST00000397077.1	-	11	1878	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	ATP2B2_ENST00000352432.4_Silent_p.L480L|ATP2B2_ENST00000343816.4_Silent_p.L466L|ATP2B2_ENST00000383800.4_Silent_p.L435L|ATP2B2_ENST00000360273.2_Silent_p.L480L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	480					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGCGTACCAGGTTGTTGTCC	0.577000													30	25					0	0	0.001786	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378553	138378553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:138378553G>A	ENST00000356818.2	+	4	2746	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.E733K|PPP1R26_ENST00000401470.3_Missense_Mutation_p.E733K|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E733K|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E733K	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	733						nucleolus	protein binding										GCACTTCTTGGAGCAGCTGGG	0.612000													7	1					0	0	0.001984	0	0
TPR	7175	broad.mit.edu	37	1	186287896	186287896	+	Silent	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186287896A>C	ENST00000367478.3	-	47	6929	c.6633T>G	c.(6631-6633)gtT>gtG	p.V2211V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2211					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GAGTAGTGGGAACACTTCGGC	0.408000			T	NTRK1	papillary thyroid								58	37					0	0	0.003610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602303	13602303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:13602303G>A	ENST00000040738.5	-	10	6356	c.6221C>T	c.(6220-6222)tCc>tTc	p.S2074F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2074							DNA binding										GGTACTGGTGGAAATAATCAA	0.433000													13	10					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9072472	9072472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9072472C>T	ENST00000397910.4	-	3	15177	c.14974G>A	c.(14974-14976)Gac>Aac	p.D4992N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4994	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGATGGGTCCATGGTAAAA	0.473000													19	19					0	0	0.001523	0	0
CFI	3426	broad.mit.edu	37	4	110687870	110687870	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:110687870C>T	ENST00000394634.2	-	2	375	c.168G>A	c.(166-168)gaG>gaA	p.E56E	CFI_ENST00000394635.3_Silent_p.E56E|CFI_ENST00000510800.1_Silent_p.E56E|CFI_ENST00000512148.1_Silent_p.E56E	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	56	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CACAGGTGCCCTCAATGCATC	0.453000													19	23					0	0	0.001216	0	0
FREM1	158326	broad.mit.edu	37	9	14819287	14819287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:14819287G>A	ENST00000380881.4	-	15	3309	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	FREM1_ENST00000422223.2_Missense_Mutation_p.P831S|FREM1_ENST00000380880.3_Missense_Mutation_p.P831S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	831					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAATTTAGAGGAAATCCATTC	0.418000													22	7					0	0	0.003954	0	0
SF3B1	23451	broad.mit.edu	37	2	198273101	198273101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:198273101G>A	ENST00000335508.5	-	8	1200	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	370	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACCTGGAGTAGGGGTAGCCAT	0.423000			Mis		myelodysplastic syndrome								24	48					0	0	0.002299	0	0
GRIA2	2891	broad.mit.edu	37	4	158282238	158282238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:158282238G>A	ENST00000264426.9	+	14	2647	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000449365.1_Intron	NM_001083619.1	NP_001077088.1	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	790					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATGGTGGTACGACAAAGGAGA	0.438000													8	15					0	0	0.004482	0	0
SERINC3	10955	broad.mit.edu	37	20	43142677	43142677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43142677G>A	ENST00000342374.4	-	2	201	c.44C>T	c.(43-45)cCa>cTa	p.P15L	SERINC3_ENST00000255175.1_Missense_Mutation_p.P15L|SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	15						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAGAGGCATGGAACCTGGAA	0.493000													32	35					0	0	0.001786	0	0
UNC13C	440279	broad.mit.edu	37	15	54817794	54817794	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:54817794C>T	ENST00000545554.1	+	24	5505	c.5505C>T	c.(5503-5505)ctC>ctT	p.L1835L	UNC13C_ENST00000537900.1_Silent_p.L1833L|UNC13C_ENST00000260323.11_Silent_p.L1835L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1835					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGTTAAGCTCAGTGGGGTCC	0.393000													4	14					0	0	0.000248	0	0
ITGA1	3672	broad.mit.edu	37	5	52160651	52160651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:52160651C>T	ENST00000282588.6	+	4	808	c.350C>T	c.(349-351)tCa>tTa	p.S117L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	117					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACATTTGGATCAACTTTAGTC	0.323000													12	14					0	0	0.001368	0	0
NPAS3	64067	broad.mit.edu	37	14	33836458	33836458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:33836458G>A	ENST00000346562.2	+	3	430	c.356G>A	c.(355-357)gGa>gAa	p.G119E	NPAS3_ENST00000551492.1_Missense_Mutation_p.G156E|NPAS3_ENST00000357798.5_Missense_Mutation_p.G138E|NPAS3_ENST00000356141.4_Missense_Mutation_p.G151E|NPAS3_ENST00000551008.1_Missense_Mutation_p.G49E|NPAS3_ENST00000341321.4_Missense_Mutation_p.G151E|NPAS3_ENST00000547068.1_Missense_Mutation_p.G47E|NPAS3_ENST00000548645.1_Missense_Mutation_p.G121E	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCACATTTGGGAAGCCACATT	0.313000													3	16					0	0	0.000248	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	C	T	rs142326096		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:21318927C>T	ENST00000583088.1	+	3	1168	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ12_ENST00000331718.5_Silent_p.F91F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGCTGGCCTTCCTTGCCTCCT	0.622000										Prostate(3;0.18)			12	23					0	0	0.001855	0	0
VASH1	22846	broad.mit.edu	37	14	77236309	77236309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77236309C>T	ENST00000167106.4	+	2	946	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	VASH1_ENST00000554237.1_Missense_Mutation_p.P105S|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	105					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TCCCCAGATCCCCATACCGAG	0.602000													65	66					0	0	0.003610	0	0
C6orf136	221545	broad.mit.edu	37	6	30617572	30617572	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30617572C>T	ENST00000293604.6	+	2	1046	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Silent_p.L104L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	104										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAGCGGCTGCCTGGATGGGCT	0.607000													76	111					0	0	0.003610	0	0
IGHD	3495	broad.mit.edu	37	14	106307402	106307402	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106307402C>T	ENST00000390556.2	-	0	635																											TCCACGCCCCCTGTGGGGACC	0.672000													5	7					0	0	0.000602	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074350	73074350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:73074350C>T	ENST00000263674.3	+	15	5446	c.5096C>T	c.(5095-5097)cCt>cTt	p.P1699L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1699					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCCTTTGGGCCTGGTGGTCCC	0.662000													4	8					0	0	0.000602	0	0
STAB1	23166	broad.mit.edu	37	3	52529498	52529498	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52529498C>T	ENST00000321725.6	+	1	145	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	23					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCTTCGTCAGGGGGCAGG	0.706000													5	14					0	0	0.000602	0	0
TRPC4	7223	broad.mit.edu	37	13	38320265	38320265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:38320265C>T	ENST00000379705.3	-	3	1563	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TRPC4_ENST00000358477.2_Missense_Mutation_p.E236K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E236K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E236K|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.E236K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E236K|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.E236K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	236					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACTTGAATTCATTTTCCACC	0.458000													16	24					0	0	0.006122	0	0
GCKR	2646	broad.mit.edu	37	2	27746262	27746262	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27746262C>A	ENST00000264717.2	+	19	1897	c.1834C>A	c.(1834-1836)Cgc>Agc	p.R612S	GCKR_ENST00000424318.2_Missense_Mutation_p.R422S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	612					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGTCAGAAGCGCACTGCGGA	0.617000													12	28					7.03913e-09	9.02512e-09	0.001368	1	0
TIE1	7075	broad.mit.edu	37	1	43779609	43779609	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:43779609G>A	ENST00000372476.3	+	14	2458	c.2379G>A	c.(2377-2379)cgG>cgA	p.R793R	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.R438R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	793					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCTGCATCGGAGACGCACCT	0.612000													4	32					0	0	0.000248	0	0
BTK	695	broad.mit.edu	37	X	100625055	100625055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100625055C>T	ENST00000308731.7	-	5	485	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	BTK_ENST00000372880.1_Missense_Mutation_p.E108K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	108	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAGGCCCTTCATCATATACA	0.408000									Agammaglobulinemia, X-linked				33	57					0	0	0.001951	0	0
AOC4P	90586	broad.mit.edu	37	17	41019673	41019673	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41019673C>T	ENST00000585538.1	+	0	512					NR_002773.1																						CACTGGCCATCGTCTTCTTTG	0.647000													28	3					0	0	0.007291	0	0
UBR4	23352	broad.mit.edu	37	1	19477183	19477183	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:19477183A>C	ENST00000375267.2	-	49	7321	c.7318T>G	c.(7318-7320)Ttc>Gtc	p.F2440V	UBR4_ENST00000375254.3_Missense_Mutation_p.F2440V|UBR4_ENST00000375217.2_Missense_Mutation_p.F2440V|UBR4_ENST00000375226.2_Missense_Mutation_p.F2440V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2440					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAGAAGGGAATTCTTCTGGG	0.532000													58	142					0	0	0.003610	0	0
C4orf32	132720	broad.mit.edu	37	4	113107979	113107979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:113107979G>A	ENST00000309733.4	+	2	468	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	95						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTGGAGAACGAATAGTGGAA	0.413000													44	40					0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954490	35954490	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35954490G>A	ENST00000274278.3	-	7	1743	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	462						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTCTGGAGGATGTGGTCGA	0.612000													18	16					0	0	0.004990	0	0
ATCAY	85300	broad.mit.edu	37	19	3910882	3910882	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3910882C>T	ENST00000450849.2	+	8	1328	c.861C>T	c.(859-861)ttC>ttT	p.F287F	ATCAY_ENST00000398448.3_Silent_p.F293F|ATCAY_ENST00000600960.1_Silent_p.F287F|ATCAY_ENST00000301260.6_Silent_p.F287F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	287	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCGCCCTTTCATCAGGTGAG	0.567000													11	37					0	0	0.000978	0	0
ITPKB	3707	broad.mit.edu	37	1	226924447	226924447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:226924447G>A	ENST00000429204.1	-	2	1040	c.713C>T	c.(712-714)cCc>cTc	p.P238L	ITPKB_ENST00000366784.1_Missense_Mutation_p.P238L|ITPKB_ENST00000272117.3_Missense_Mutation_p.P238L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	238							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGCCCGGCCGGGAAGAGGTGG	0.612000													36	115					0	0	0.001951	0	0
SLC4A5	57835	broad.mit.edu	37	2	74480220	74480220	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:74480220C>T	ENST00000394019.2	-	15	1546	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	SLC4A5_ENST00000377632.1_Silent_p.R383R|SLC4A5_ENST00000377634.4_Silent_p.R383R|SLC4A5_ENST00000423644.1_Silent_p.R383R|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.R319R|SLC4A5_ENST00000358683.4_Silent_p.R319R|SLC4A5_ENST00000357822.5_Silent_p.R383R|SLC4A5_ENST00000346834.4_Silent_p.R383R	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	383						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCAGATCTTCCCGATTGCGGG	0.517000													17	32					0	0	0.006122	0	0
ARMC4	55130	broad.mit.edu	37	10	28151542	28151542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:28151542C>T	ENST00000305242.5	-	18	2712	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	ARMC4_ENST00000537576.1_Missense_Mutation_p.E566K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E399K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	874							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGAACCATTTCCCCAGCATCC	0.363000													8	8					0	0	0.003080	0	0
CCDC93	54520	broad.mit.edu	37	2	118753059	118753059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:118753059C>T	ENST00000376300.2	-	6	619	c.482G>A	c.(481-483)aGa>aAa	p.R161K	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.R161K	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	161										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTTTCTTTTCTCTTTATGAA	0.413000													17	31					0	0	0.004007	0	0
GPC5	2262	broad.mit.edu	37	13	92345938	92345938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:92345938C>T	ENST00000377067.3	+	3	1195	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	275						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGGATACTGCCTCAATGTCAT	0.552000													22	25					0	0	0.003330	0	0
RBP4	5950	broad.mit.edu	37	10	95353766	95353766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:95353766C>T	ENST00000371467.1	-	5	701	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RBP4_ENST00000371469.2_Missense_Mutation_p.D126N|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.D128N			P02753	RET4_HUMAN	retinol binding protein 4, plasma	128					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	GTGTCGTAGTCTGTGTCGACG	0.572000													24	22					0	0	0.003330	0	0
RBBP5	5929	broad.mit.edu	37	1	205065953	205065953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:205065953G>A	ENST00000264515.6	-	12	1394	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	RBBP5_ENST00000367164.1_Missense_Mutation_p.P418L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	418					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATCCGGTGGGGGGCCGTAAGG	0.502000													68	50					0	0	0.003610	0	0
MMAB	326625	broad.mit.edu	37	12	109999605	109999605	+	Missense_Mutation	SNP	G	G	A	rs138708209		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:109999605G>A	ENST00000545712.2	-	5	794	c.401C>T	c.(400-402)tCg>tTg	p.S134L	MMAB_ENST00000540016.1_Missense_Mutation_p.S82L|MMAB_ENST00000266839.5_Missense_Mutation_p.S43L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	134					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCCGGGCCGAGGAGCATGG	0.592000													10	4					0	0	0.000673	0	0
RASA2	5922	broad.mit.edu	37	3	141328281	141328281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:141328281C>T	ENST00000286364.3	+	22	2280	c.2245C>T	c.(2245-2247)Caa>Taa	p.Q749*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.Q750*|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	749					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGCAGACATCCAAATAGATAT	0.318000													22	16					0	0	0.002780	0	0
ACMSD	130013	broad.mit.edu	37	2	135659392	135659392	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:135659392C>T	ENST00000356140.5	+	10	1109	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000283054.4_Silent_p.L267L|ACMSD_ENST00000392928.1_Silent_p.L267L	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	325					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CGGCAATGCCCTGGCATTTTT	0.294000													22	20					0	0	0.004656	0	0
FSIP2	401024	broad.mit.edu	37	2	186689207	186689207	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:186689207G>A	ENST00000343098.5	+	20	20740	c.20740_splice	c.e20+1	p.E6914_splice	FSIP2_ENST00000424728.1_Splice_Site_p.E6825_splice	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATTAGAAGGTTGGACTCC	0.289000													5	6					0	0	0.000602	0	0
ZNF318	24149	broad.mit.edu	37	6	43322940	43322940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:43322940G>A	ENST00000361428.2	-	4	2209	c.2132C>T	c.(2131-2133)cCa>cTa	p.P711L	ZNF318_ENST00000318149.3_Missense_Mutation_p.P711L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	711					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTAGGAATGGAGGGCTGTT	0.512000													19	25					0	0	0.007413	0	0
RASGRF2	5924	broad.mit.edu	37	5	80503116	80503116	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:80503116G>C	ENST00000265080.4	+	21	3086	c.3019G>C	c.(3019-3021)Gca>Cca	p.A1007P	CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1007	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CATGGAGCTGGCAGAACAGAT	0.572000													9	33					0	0	0.006214	0	0
CPNE5	57699	broad.mit.edu	37	6	36746699	36746699	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:36746699C>T	ENST00000244751.2	-	9	1188	c.564G>A	c.(562-564)ctG>ctA	p.L188L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	188	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTTTCTTGTCCAGCTTGTTGG	0.537000													73	20					0	0	0.003610	0	0
MROH5	389690	broad.mit.edu	37	8	142487552	142487552	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:142487552G>A	ENST00000430863.1	-	0	1476					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CGCGTGCACAGAGTGTCCTGG	0.667000													39	24					0	0	0.007835	0	0
FKBP6	8468	broad.mit.edu	37	7	72744229	72744229	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72744229G>A	ENST00000252037.4	+	4	411	c.342G>A	c.(340-342)ccG>ccA	p.P114P	FKBP6_ENST00000431982.2_Silent_p.P109P|FKBP6_ENST00000413573.2_Silent_p.P84P	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	114	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.P114P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTTCAAACCGAACTACGCCT	0.537000													31	21					0	0	0.002096	0	0
GBA3	57733	broad.mit.edu	37	4	22729274	22729274	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:22729274C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTGAGTTATCTCAGGCACCC	0.413000													23	47					0	0	0.001882	0	0
TBR1	10716	broad.mit.edu	37	2	162273610	162273610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:162273610G>A	ENST00000389554.3	+	1	1006	c.689G>A	c.(688-690)gGa>gAa	p.G230E		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCAAACAGGGAAGGTAATAC	0.592000													22	27					0	0	0.001523	0	0
MTUS2	23281	broad.mit.edu	37	13	29608082	29608082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:29608082C>T	ENST00000431530.3	+	2	2354	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	756	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTATGAAGTCCCTCCAACTTT	0.448000													5	16					0	0	0.001168	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167466	17167466	+	Silent	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:17167466C>G	ENST00000265970.7	-	6	1583	c.1584G>C	c.(1582-1584)gtG>gtC	p.V528V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.V148V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	528					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGTTTAAATCCACGGGTGTTT	0.328000													20	40					0	0	0.001882	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:99012478C>T	ENST00000393504.1	+	8	1262	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F|CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000													14	27					0	0	0.001855	0	0
FBXO10	26267	broad.mit.edu	37	9	37537208	37537208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:37537208C>T	ENST00000432825.2	-	3	1366	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	440						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTCCCTTCCCGTCCCGGAAG	0.577000													38	4					0	0	0.007835	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156989	26156989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:26156989G>A	ENST00000304218.3	+	1	431	c.371G>A	c.(370-372)gGc>gAc	p.G124D		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	124					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAAAGGCAGGCGCGGCCAAG	0.637000													18	4					0	0	0.007413	0	0
DHX40	79665	broad.mit.edu	37	17	57682846	57682846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:57682846C>T	ENST00000451169.2	+	20	2226	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	DHX40_ENST00000251241.4_Missense_Mutation_p.H671Y|DHX40_ENST00000425628.3_Missense_Mutation_p.H594Y			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	671							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATCATTTTTCATGAGGTATT	0.363000													33	18					0	0	0.004878	0	0
FMR1	2332	broad.mit.edu	37	X	147024747	147024747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:147024747G>A	ENST00000218200.8	+	13	1538	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	FMR1_ENST00000370477.1_Missense_Mutation_p.E437K|FMR1_ENST00000440235.2_Missense_Mutation_p.E105K|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370475.4_Missense_Mutation_p.E458K|FMR1_ENST00000370470.1_Missense_Mutation_p.E458K|FMR1_ENST00000439526.2_Missense_Mutation_p.E435K|FMR1_ENST00000370471.3_Intron	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	458	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TACAGATAAGGAAAAAAGCTA	0.463000									Fragile X syndrome				28	73					0	0	0.006320	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736223	12736223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:12736223G>A	ENST00000380682.1	+	16	3784	c.3278G>A	c.(3277-3279)tGg>tAg	p.W1093*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1093					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGTCAAAGATGGTATGTGGCC	0.493000													21	83					0	0	0.002299	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805507	106805507	+	RNA	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106805507G>T	ENST00000438142.2	-	0	127																											CTGCACCTGGGGCAGGACCCC	0.597000													39	56					1.47857e-17	1.89753e-17	0.003610	1	0
MAP4	4134	broad.mit.edu	37	3	47957454	47957454	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:47957454G>A	ENST00000426837.2	-	8	2001	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	MAP4_ENST00000395734.3_Silent_p.F621F|MAP4_ENST00000360240.6_Silent_p.F621F|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	621					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTGAAATCATGAAAGTAGGTG	0.418000													71	33					0	0	0.003610	0	0
SBF1	6305	broad.mit.edu	37	22	50906282	50906282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:50906282G>A	ENST00000380817.2	-	3	395	c.212C>T	c.(211-213)aCc>aTc	p.T71I	SBF1_ENST00000390679.3_Missense_Mutation_p.T71I|SBF1_ENST00000348911.6_Missense_Mutation_p.T71I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	71	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTTGATGTCGGTGAGGACAGC	0.607000													50	19					0	0	0.003610	0	0
OR10T2	128360	broad.mit.edu	37	1	158368446	158368446	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158368446C>A	ENST00000334438.1	-	1	810	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271Y(1)|p.D271H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACCAACTGATCCTTGTCTGAG	0.473000													7	29					0.00307968	0.00390064	0.003080	1	0
GABPB1	2553	broad.mit.edu	37	15	50596163	50596163	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:50596163C>T	ENST00000380877.3	-	3	699	c.276_splice	c.e3+1	p.K92_splice	GABPB1_ENST00000543881.1_Splice_Site_p.K16_splice|GABPB1_ENST00000359031.4_Splice_Site_p.K92_splice|GABPB1_ENST00000429662.2_Splice_Site_p.K92_splice|GABPB1_ENST00000396464.3_Splice_Site_p.K92_splice|GABPB1_ENST00000560825.1_Splice_Site_p.K92_splice|GABPB1_ENST00000220429.8_Splice_Site_p.K92_splice	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	92					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAACACATACCTTAAGTAAAA	0.398000													10	57					0	0	0.000978	0	0
FAP	2191	broad.mit.edu	37	2	163075645	163075645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163075645G>A	ENST00000188790.4	-	8	742	c.535C>T	c.(535-537)Cca>Tca	p.P179S	FAP_ENST00000443424.1_Missense_Mutation_p.P154S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	179					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGAAAAGGTGGATCTCCTGGT	0.328000													30	41					0	0	0.001512	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279316	36279316	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36279316C>T	ENST00000007510.4	+	21	3993	c.3849C>T	c.(3847-3849)acC>acT	p.T1283T	ARHGAP33_ENST00000314737.5_Silent_p.T1122T|ARHGAP33_ENST00000378944.5_Silent_p.T1119T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1283					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGGGCCAGACCCGAAGCTACT	0.597000													7	3					0	0	0.003080	0	0
OR10K1	391109	broad.mit.edu	37	1	158435491	158435491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158435491C>T	ENST00000289451.2	+	1	220	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCATCATTTCCACCATTGTG	0.498000													19	68					0	0	0.002299	0	0
SPATA18	132671	broad.mit.edu	37	4	52945987	52945987	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:52945987C>T	ENST00000295213.4	+	9	1631	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SPATA18_ENST00000419395.2_Silent_p.F387F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	419					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAGTGACTTCATCCAGGAGA	0.428000													26	80					0	0	0.003954	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321935	134321935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:134321935C>T	ENST00000357304.4	+	6	816	c.761C>T	c.(760-762)tCt>tTt	p.S254F	PRRC2B_ENST00000405995.1_Missense_Mutation_p.S254F|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S254F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	254							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGACCCCTCTCTCCGCCCG	0.562000													18	2					0	0	0.006122	0	0
PLCB1	23236	broad.mit.edu	37	20	8678349	8678349	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:8678349G>A	ENST00000378641.3	+	11	1561	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	PLCB1_ENST00000378637.2_Silent_p.L362L|PLCB1_ENST00000338037.6_Silent_p.L362L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	362	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGTGGAGCTGGACTGCTGGA	0.473000													62	79					0	0	0.003610	0	0
ZEB1	6935	broad.mit.edu	37	10	31784752	31784752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:31784752G>A	ENST00000446923.2	+	3	647	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.E103K|ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000320985.10_Missense_Mutation_p.E102K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E35K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	102					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAGGCAGATGAAGCAGGATG	0.408000													36	33					0	0	0.007835	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646002	24646002	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:24646002G>A	ENST00000376862.3	+	4	1272	c.639G>A	c.(637-639)aaG>aaA	p.K213K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	213					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCGTGGCCAAGGGGGACTTGC	0.592000													115	137					0	0	0.003610	0	0
GDPD4	220032	broad.mit.edu	37	11	76969473	76969473	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:76969473G>A	ENST00000315938.4	-	10	1072	c.822C>T	c.(820-822)ttC>ttT	p.F274F	GDPD4_ENST00000376217.2_Silent_p.F274F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	274	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAGTCGATAGGAAATCCCAGT	0.433000													18	35					0	0	0.006122	0	0
PAX6	5080	broad.mit.edu	37	11	31823165	31823165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:31823165C>T	ENST00000419022.1	-	7	811	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PAX6_ENST00000379132.3_Missense_Mutation_p.E101K|PAX6_ENST00000241001.8_Missense_Mutation_p.E101K|PAX6_ENST00000379115.4_Missense_Mutation_p.E115K|PAX6_ENST00000379129.2_Missense_Mutation_p.E115K|PAX6_ENST00000379123.5_Missense_Mutation_p.E101K|PAX6_ENST00000379107.2_Missense_Mutation_p.E115K|PAX6_ENST00000379111.2_Missense_Mutation_p.E101K	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	101	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTCGGATTTCCCAAGCAAAG	0.507000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				29	48					0	0	0.004878	0	0
NRG1	3084	broad.mit.edu	37	8	32621491	32621491	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:32621491C>T	ENST00000338921.4	+	13	2035	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287845.5_Silent_p.F469F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.F498F|NRG1_ENST00000287842.3_Silent_p.F495F|NRG1_ENST00000519301.1_Silent_p.F448F|NRG1_ENST00000356819.4_Silent_p.F503F|NRG1_ENST00000539990.1_Silent_p.F341F|NRG1_ENST00000405005.2_Silent_p.F498F			Q02297	NRG1_HUMAN	neuregulin 1	498					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTCAGCAGTTCAGCTCCTTCC	0.557000													20	12					0	0	0.001523	0	0
OR5M3	219482	broad.mit.edu	37	11	56237466	56237466	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56237466T>A	ENST00000312240.2	-	1	548	c.508A>T	c.(508-510)Att>Ttt	p.I170F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTGATCTCAATTTTTCCACAG	0.413000													9	23					0	0	0.006214	0	0
ARNT2	9915	broad.mit.edu	37	15	80869278	80869278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:80869278C>T	ENST00000533983.1	+	16	1891	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	ARNT2_ENST00000303329.4_Missense_Mutation_p.P529S|ARNT2_ENST00000527771.1_Missense_Mutation_p.P518S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	529					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AAGCCCATTTCCCTCTGGACA	0.572000													86	30					0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30977223	30977223	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30977223G>C	ENST00000262519.8	+	8	2707	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCTCAGTGGGGAGGGATGCCC	0.632000													43	104					0	0	0.002522	0	0
NUF2	83540	broad.mit.edu	37	1	163310153	163310153	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:163310153G>A	ENST00000271452.3	+	9	885		c.e9-1		NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTTCCCTTAGATAGTGCTGC	0.328000													29	39					0	0	0.001512	0	0
OR2T2	401992	broad.mit.edu	37	1	248616128	248616128	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:248616128C>T	ENST00000342927.3	+	1	52	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCAGAACTCCACTAACTTCG	0.502000													8	74					0	0	0.000673	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:228884529G>A	ENST00000392056.3	-	7	1087	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_ENST00000344657.5_Silent_p.S347S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	347						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCATCATGGAGAAATAAG	0.423000													29	41					0	0	0.002096	0	0
LRP4	4038	broad.mit.edu	37	11	46897155	46897155	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:46897155G>A	ENST00000378623.1	-	27	4019	c.3777C>T	c.(3775-3777)acC>acT	p.T1259T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1259					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCGAGCAGGGTGAGGCCAT	0.572000													7	18					0	0	0.003080	0	0
TTC21A	199223	broad.mit.edu	37	3	39162532	39162532	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:39162532C>T	ENST00000301819.6	+	9	1146	c.969C>T	c.(967-969)atC>atT	p.I323I	TTC21A_ENST00000440121.1_Silent_p.I274I|TTC21A_ENST00000431162.2_Silent_p.I323I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	323							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTAGTTTCATCGAGCGCACCT	0.527000													19	41					0	0	0.001216	0	0
BCL11B	64919	broad.mit.edu	37	14	99641186	99641186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:99641186C>T	ENST00000345514.2	-	3	2040	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	BCL11B_ENST00000443726.2_Missense_Mutation_p.E469K|BCL11B_ENST00000357195.3_Missense_Mutation_p.E663K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	663	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGAAGGGCTCGGTGCCTGGC	0.791000			T	TLX3	T-ALL								5	10					0	0	0.001168	0	0
INPP5F	22876	broad.mit.edu	37	10	121541275	121541275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:121541275G>A	ENST00000361976.2	+	3	473	c.307G>A	c.(307-309)Gag>Aag	p.E103K	INPP5F_ENST00000369083.3_Missense_Mutation_p.E103K|INPP5F_ENST00000369081.1_Missense_Mutation_p.E7K	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	103							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCAGGATCTTGAGCTAGAGGT	0.393000													16	11					0	0	0.001216	0	0
CRNN	49860	broad.mit.edu	37	1	152384617	152384617	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152384617C>T	ENST00000271835.3	-	2	155	c.93G>A	c.(91-93)ggG>ggA	p.G31G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	31					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCAGCTCCCCTCGGGTGA	0.542000													28	43					0	0	0.007291	0	0
CLIP4	79745	broad.mit.edu	37	2	29368224	29368224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29368224C>T	ENST00000320081.5	+	8	1267	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CLIP4_ENST00000401617.2_Missense_Mutation_p.P231S|CLIP4_ENST00000404424.1_Missense_Mutation_p.P338S|CLIP4_ENST00000401605.1_Missense_Mutation_p.P338S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	338	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAATGTGCCCCCAAGTATGG	0.338000													10	25					0	0	0.006214	0	0
SPATA20	64847	broad.mit.edu	37	17	48626511	48626511	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48626511C>T	ENST00000006658.6	+	6	744	c.624C>T	c.(622-624)gtC>gtT	p.V208V	SPATA20_ENST00000393244.3_Silent_p.V148V|SPATA20_ENST00000356488.4_Silent_p.V192V|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	192					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGACCCGAGTCGGCTTCCGCA	0.637000													90	14					0	0	0.003610	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517000													18	46					0	0	0.001216	0	0
KLF12	11278	broad.mit.edu	37	13	74420439	74420439	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:74420439G>A	ENST00000377669.2	-	3	221	c.195C>T	c.(193-195)ccC>ccT	p.P65P	KLF12_ENST00000377666.4_Silent_p.P65P|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	65					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AGTCCTCCGGGGGCTCCCCTT	0.473000													30	32					0	0	0.002445	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43089247G>A	ENST00000401850.1	-	2	1200	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_ENST00000249005.2_Silent_p.F237F|A4GALT_ENST00000381278.3_Silent_p.F237F			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000													13	15					0	0	0.002450	0	0
IGSF10	285313	broad.mit.edu	37	3	151166802	151166802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:151166802G>A	ENST00000282466.3	-	4	966	c.967C>T	c.(967-969)Cag>Tag	p.Q323*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	323					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCAGACTGATCTGTCATA	0.433000													16	55					0	0	0.004007	0	0
CXorf21	80231	broad.mit.edu	37	X	30578350	30578350	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30578350A>T	ENST00000378962.3	-	3	445	c.123T>A	c.(121-123)ctT>ctA	p.L41L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	41										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGGAATAGGAAAGGGTAGCAA	0.458000													42	40					0	0	0.002852	0	0
CLDN6	9074	broad.mit.edu	37	16	3065693	3065693	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:3065693C>T	ENST00000396925.1	-	3	758	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.E110E			P56747	CLD6_HUMAN	claudin 6	110					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGAATCCTTCTCCTCCACAC	0.607000													19	37					0	0	0.006122	0	0
FBN3	84467	broad.mit.edu	37	19	8137016	8137016	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8137016G>A	ENST00000600128.1	-	63	8418	c.8004C>T	c.(8002-8004)ctC>ctT	p.L2668L	FBN3_ENST00000270509.2_Silent_p.L2668L|FBN3_ENST00000601739.1_Silent_p.L2668L			Q75N90	FBN3_HUMAN	fibrillin 3	2668						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTCAGACGAGAGCAGCTCCT	0.657000													87	68					0	0	0.003610	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868969	51868969	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:51868969G>A	ENST00000453097.2	+	16	2368	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	SLC4A8_ENST00000514353.3_Silent_p.T664T|SLC4A8_ENST00000358657.3_Silent_p.T744T|SLC4A8_ENST00000394856.1_Silent_p.T664T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	717					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CGTTTAAGACGAGCCGTTATT	0.433000													29	28					0	0	0.006999	0	0
TGM7	116179	broad.mit.edu	37	15	43568686	43568686	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43568686C>T	ENST00000452443.2	-	13	2104	c.2100G>A	c.(2098-2100)aaG>aaA	p.K700K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	700					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CGAAGATGTCCTTGTAGCCTT	0.607000													18	100					0	0	0.001523	0	0
KRT74	121391	broad.mit.edu	37	12	52967139	52967139	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52967139C>T	ENST00000549343.1	-	1	461	c.423G>A	c.(421-423)cgG>cgA	p.R141R	KRT74_ENST00000305620.2_Silent_p.R141R			Q7RTS7	K2C74_HUMAN	keratin 74	141	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGATCTGTTCCCGCTCCTGGG	0.597000													54	12					0	0	0.003610	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180749	142180749	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142180749C>T	ENST00000390368.2	-	0	175																											CAGTGTCATGCTCTGTCCTGT	0.512000													24	278					0	0	0.004656	0	0
PARD3B	117583	broad.mit.edu	37	2	205983712	205983712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:205983712G>A	ENST00000406610.2	+	7	955	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PARD3B_ENST00000351153.1_Missense_Mutation_p.E250K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E250K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E250K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E250K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	250	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.E251K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTATTTCACGAAAATGAATG	0.348000													21	33					0	0	0.002780	0	0
F8	2157	broad.mit.edu	37	X	154157818	154157818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154157818G>A	ENST00000360256.4	-	14	4447	c.4247C>T	c.(4246-4248)cCa>cTa	p.P1416L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1416	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTAATAGATGGAAATGATGA	0.418000													24	54					0	0	0.004656	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028097	45028097	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45028097C>T	ENST00000454753.1	-	0	672							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTCCCTGAGTCCTCCCGCTGG	0.537000													69	289					0	0	0.003610	0	0
OR4C13	283092	broad.mit.edu	37	11	49974034	49974034	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:49974034A>C	ENST00000555099.1	+	1	92	c.60A>C	c.(58-60)aaA>aaC	p.K20N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGAATCCAAAAATGCAGAAAA	0.368000													23	23					0	0	0.001882	0	0
PSG7	5676	broad.mit.edu	37	19	43439621	43439621	+	RNA	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43439621A>G	ENST00000446844.3	-	0	454				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TATGATGTGTAAAGTGTAGGA	0.478000													53	179					0	0	0.003610	0	0
CNTN4	152330	broad.mit.edu	37	3	3081776	3081776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:3081776G>A	ENST00000397461.1	+	19	2603	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	CNTN4_ENST00000397459.2_Missense_Mutation_p.R412Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.R740Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.R521Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.R412Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.R740Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	740	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGGCCTTCCGGCCCTACGGT	0.512000													40	18					0	0	0.002222	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074922	106074922	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:106074922G>A	ENST00000278071.2	-	3	1340	c.888C>T	c.(886-888)gaC>gaT	p.D296D	ITPRIP_ENST00000337478.1_Silent_p.D296D|ITPRIP_ENST00000358187.2_Silent_p.D296D	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	296						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGCATCGTGTCCAGGTACA	0.607000													37	32					0	0	0.006230	0	0
RP1	6101	broad.mit.edu	37	8	55541965	55541965	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55541965C>T	ENST00000220676.1	+	4	5671	c.5523C>T	c.(5521-5523)acC>acT	p.T1841T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1841					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAATGAAACCTGTGCCAAGG	0.413000													20	7					0	0	0.001216	0	0
GPR39	2863	broad.mit.edu	37	2	133175290	133175290	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133175290C>T	ENST00000329321.3	+	1	1144	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	225						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGCATCTTCGGCGCCTTCG	0.607000													30	32					0	0	0.007291	0	0
C11orf82	220042	broad.mit.edu	37	11	82642923	82642923	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:82642923C>T	ENST00000533655.1	+	6	755	c.543C>T	c.(541-543)ttC>ttT	p.F181F	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.F181F|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	181					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGACTACTTCCATCAACTTT	0.413000													20	42					0	0	0.001523	0	0
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5322889G>A	ENST00000380224.1	-	1	337	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507000													13	28					0	0	0.001855	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906432	13906432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:13906432G>A	ENST00000279593.3	-	3	1038	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	277					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGAGATGAGCCCAGTGGGG	0.552000													18	5					0	0	0.006122	0	0
TRIM21	6737	broad.mit.edu	37	11	4406950	4406950	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4406950G>A	ENST00000254436.7	-	7	1105	c.993C>T	c.(991-993)gtC>gtT	p.V331V	TRIM21_ENST00000543625.1_Silent_p.V331V	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	331	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGCACCCAGGACCATAGGAT	0.512000													5	5					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333955	25333955	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25333955C>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-21_ENST00000384507.1_lincRNA	NR_003361.1																						GTGCGTGGATCGATGATGACT	0.458000													21	66					0	0	0.001523	0	0
ANK1	286	broad.mit.edu	37	8	41530113	41530113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:41530113C>T	ENST00000396942.1	-	38	4938	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	ANK1_ENST00000289734.7_Missense_Mutation_p.E1619K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1619K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1619K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1619K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1660K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1619K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1619	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCACAAGTTCCAGAGAGCCC	0.567000													79	47					0	0	0.003610	0	0
SYT17	51760	broad.mit.edu	37	16	19195419	19195419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19195419G>A	ENST00000562034.1	+	3	4516	c.718G>A	c.(718-720)Gac>Aac	p.D240N	SYT17_ENST00000568115.1_Missense_Mutation_p.D240N|SYT17_ENST00000562711.2_Missense_Mutation_p.D297N|SYT17_ENST00000355377.2_Missense_Mutation_p.D301N			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	301	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GTGTGAAGTTGACCTGGTCAA	0.532000													82	157					0	0	0.003610	0	0
MLH1	4292	broad.mit.edu	37	3	37067129	37067129	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37067129C>T	ENST00000231790.2	+	12	1256	c.1038_splice	c.e12-1	p.T347_splice	MLH1_ENST00000435176.1_Splice_Site_p.T249_splice|MLH1_ENST00000536378.1_Splice_Site_p.T106_splice|MLH1_ENST00000458205.2_Splice_Site_p.T106_splice|MLH1_ENST00000455445.2_Splice_Site_p.T106_splice|MLH1_ENST00000539477.1_Splice_Site_p.T106_splice	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	347					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ttAATACAGACTTTGCTACCA	0.353000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	13					0	0	0.003080	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272875	57272875	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:57272875T>C	ENST00000537866.1	+	15	2592	c.1719T>C	c.(1717-1719)tcT>tcC	p.S573S	RSPRY1_ENST00000394420.4_Silent_p.S573S|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	573						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GACAGATTTCTCATATTTCAT	0.398000													28	7					0	0	0.004656	0	0
SNX6	58533	broad.mit.edu	37	14	35072581	35072581	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:35072581G>A	ENST00000396526.3	-	5	637	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SNX6_ENST00000396534.3_Silent_p.F47F|SNX6_ENST00000355110.5_Silent_p.F51F|SNX6_ENST00000362031.4_Silent_p.F175F			Q9UNH7	SNX6_HUMAN	sorting nexin 6	163	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AGAAGACATGGAAATTTAAAT	0.353000													6	26					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179427023	179427023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179427023C>T	ENST00000589042.1	-	326	84060	c.83836G>A	c.(83836-83838)Gat>Aat	p.D27946N	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19073N|TTN_ENST00000460472.2_Missense_Mutation_p.D18881N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D26305N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25378N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19006N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26305	Fibronectin type-III 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTGGATCACTTCTTCCC	0.413000													13	19					0	0	0.001368	0	0
COL20A1	57642	broad.mit.edu	37	20	61941759	61941759	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61941759C>T	ENST00000422202.1	+	10	1379	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	COL20A1_ENST00000435874.1_Silent_p.S437S|COL20A1_ENST00000358894.6_Silent_p.S430S|COL20A1_ENST00000326996.6_Silent_p.S430S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	430	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCGCCTCCACGGAGCTGC	0.682000													17	15					0	0	0.001216	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595871	64595871	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:64595871C>T	ENST00000536360.1	-	10	2124	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	437	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATTGGTATTCGCAGTAATGT	0.413000													30	29					0	0	0.002096	0	0
POTEF	728378	broad.mit.edu	37	2	130877771	130877771	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:130877771G>A	ENST00000357462.5	-	1	411	c.318C>T	c.(316-318)ttC>ttT	p.F106F	POTEF_ENST00000360967.5_Silent_p.F106F|POTEF_ENST00000409914.2_Silent_p.F106F|POTEF_ENST00000361163.4_Silent_p.F106F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	106						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCAGCAGGGGAAGCAGTGGC	0.602000													41	117					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175097242	175097242	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:175097242C>T	ENST00000239462.4	+	14	3233	c.3120C>T	c.(3118-3120)tcC>tcT	p.S1040S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1040	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCCTGTCTCCCTTGTTGCCT	0.532000													27	21					0	0	0.007291	0	0
SYTL5	94122	broad.mit.edu	37	X	37984626	37984626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37984626G>A	ENST00000357972.5	+	16	2463	c.1917G>A	c.(1915-1917)tgG>tgA	p.W639*	SYTL5_ENST00000456733.2_Nonsense_Mutation_p.W661*|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Nonsense_Mutation_p.W639*			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	639	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACCCTCAGTGGAATCATACAT	0.418000													4	27					0	0	0.000248	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821665	5821665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:5821665C>T	ENST00000381095.3	-	5	1681	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D352N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D352N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D352N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D372N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	352					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATCTGGGGGTCGTCTGGGATG	0.597000													12	41					0	0	0.004007	0	0
TGM4	7047	broad.mit.edu	37	3	44929234	44929234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44929234C>T	ENST00000296125.4	+	3	315	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	83					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCCGAGGACGCCCTCAGACCA	0.622000													16	21					0	0	0.007413	0	0
ZNF728	388523	broad.mit.edu	37	19	23170170	23170170	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23170170G>A	ENST00000594710.1	-	3	311	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CCTTGCTCCAGAAAAATGATC	0.413000													15	22					0	0	0.006122	0	0
MCF2	4168	broad.mit.edu	37	X	138698533	138698533	+	Missense_Mutation	SNP	C	C	T	rs41304534	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:138698533C>T	ENST00000520602.1	-	12	1564	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MCF2_ENST00000536274.1_Missense_Mutation_p.E328K|MCF2_ENST00000370573.4_Missense_Mutation_p.E367K|MCF2_ENST00000414978.1_Missense_Mutation_p.E427K|MCF2_ENST00000338585.6_Missense_Mutation_p.E367K|MCF2_ENST00000370578.4_Missense_Mutation_p.E512K|MCF2_ENST00000370576.4_Missense_Mutation_p.E367K|MCF2_ENST00000519895.1_Missense_Mutation_p.E427K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	367					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAAAATTTTCAATGTCTTGG	0.373000													7	9					0	0	0.001984	0	0
ABCC1	4363	broad.mit.edu	37	16	16225793	16225793	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:16225793G>A	ENST00000399408.2	+	28	4171		c.e28+1		ABCC1_ENST00000346370.5_Splice_Site|ABCC1_ENST00000399410.3_Splice_Site|ABCC1_ENST00000349029.5_Splice_Site|ABCC1_ENST00000351154.5_Splice_Site|ABCC1_ENST00000345148.5_Splice_Site			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGAGAAAAGGTGGGTACACA	0.602000													6	23					0	0	0.001168	0	0
OPLAH	26873	broad.mit.edu	37	8	145110730	145110730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:145110730G>A	ENST00000426825.1	-	16	2290	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	737							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ATGGACAGCTGGATAGGGTCC	0.647000													4	3					0	0	0.000602	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817514	26817514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26817514G>A	ENST00000444914.3	+	3	841	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SLC13A2_ENST00000314669.5_Missense_Mutation_p.G92R|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G21R|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G49R	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	92						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTGTTCTTCGGGGGGCTGCT	0.637000													115	17					0	0	0.003610	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363073	22363073	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22363073G>A	ENST00000390438.2	+	0	332																											TTCTCCTGAAGTACACATCAG	0.502000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	63					0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125315593	125315593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125315593C>T	ENST00000373688.2	+	1	203	c.145C>T	c.(145-147)Ctt>Ttt	p.L49F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGGCATCTTCCTTGGCATGTA	0.527000													14	27					0	0	0.003163	0	0
UNC5C	8633	broad.mit.edu	37	4	96256594	96256594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:96256594G>A	ENST00000453304.1	-	2	661	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	UNC5C_ENST00000506749.1_Missense_Mutation_p.H105Y|UNC5C_ENST00000504962.1_Missense_Mutation_p.H105Y	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	105	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTACTATGTGGTCCTTCTGA	0.408000													6	17					0	0	0.001984	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171080110G>A	ENST00000367755.4	+	6	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_ENST00000542847.1_Missense_Mutation_p.E247K|FMO3_ENST00000392085.2_Missense_Mutation_p.E267K|FMO3_ENST00000538429.1_Missense_Mutation_p.E204K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	267					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCAAGCATGAAAACTATGG	0.438000													26	16					0	0	0.006320	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931837	102931837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:102931837C>T	ENST00000423833.2	-	3	1344	c.119G>A	c.(118-120)gGa>gAa	p.G40E	MORF4L2_ENST00000451301.1_Missense_Mutation_p.G40E|MORF4L2_ENST00000441076.2_Missense_Mutation_p.G40E|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000372620.1_Intron|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G40E|MORF4L2_ENST00000433176.2_Missense_Mutation_p.G40E|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G40E			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	40					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TGTCTTCTTTCCTGAGGAGGC	0.507000													14	32					0	0	0.001855	0	0
NLRP2	55655	broad.mit.edu	37	19	55489138	55489138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55489138G>A	ENST00000543010.1	+	4	487	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	NLRP2_ENST00000537859.1_Missense_Mutation_p.R115Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R115Q|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000263437.6_Missense_Mutation_p.R115Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R115Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R92Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	115					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGGAAAGAACGACCACCTCTA	0.557000													37	30					0	0	0.003214	0	0
UBP1	7342	broad.mit.edu	37	3	33481295	33481295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:33481295C>T	ENST00000283629.3	-	1	575	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	UBP1_ENST00000283628.5_Missense_Mutation_p.V16M|UBP1_ENST00000447368.2_Missense_Mutation_p.V16M	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	16					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AAGTCGTGCACCAGCCCGGAC	0.697000													23	83					0	0	0.003954	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017136	91017136	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:91017136C>T	ENST00000268182.5	+	21	2566	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S	IQGAP1_ENST00000560738.1_Silent_p.S242S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	814	IQ 3.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTCAGTCCCTGGCAAGGA	0.512000													32	17					0	0	0.002445	0	0
EVA1A	84141	broad.mit.edu	37	2	75720527	75720527	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:75720527C>T	ENST00000233712.1	-	4	731	c.294G>A	c.(292-294)cgG>cgA	p.R98R	EVA1A_ENST00000410071.1_Silent_p.R98R|EVA1A_ENST00000410010.1_Silent_p.R86R|EVA1A_ENST00000410113.1_Silent_p.R98R|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Silent_p.R98R	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		GGCGGTGTCTCCGCACGGAGA	0.632000													25	22					0	0	0.004656	0	0
RFX6	222546	broad.mit.edu	37	6	117248384	117248384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:117248384C>T	ENST00000332958.2	+	17	2096	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	694					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCAAGCCAATCATGACTTTTA	0.537000													25	39					0	0	0.003330	0	0
KDM2B	84678	broad.mit.edu	37	12	121880320	121880320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:121880320G>A	ENST00000377069.4	-	18	3123	c.2717C>T	c.(2716-2718)tCg>tTg	p.S906L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.S975L|KDM2B_ENST00000542973.1_Missense_Mutation_p.S343L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	975					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCAGGCTCCGACTTGATGGG	0.667000													24	7					0	0	0.002780	0	0
MAST4	375449	broad.mit.edu	37	5	66396273	66396273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:66396273C>T	ENST00000404260.3	+	8	1240	c.932C>T	c.(931-933)tCc>tTc	p.S311F	MAST4_ENST00000403666.1_Missense_Mutation_p.S119F|MAST4_ENST00000403625.2_Missense_Mutation_p.S308F|MAST4_ENST00000490016.2_Missense_Mutation_p.S119F|MAST4_ENST00000405643.1_Missense_Mutation_p.S129F|MAST4_ENST00000261569.7_Missense_Mutation_p.S114F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	311						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCATCCTGTTCCTCCCAGGAG	0.418000													12	17					0	0	0.000978	0	0
C1orf177	163747	broad.mit.edu	37	1	55282787	55282787	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55282787G>C	ENST00000358193.3	+	9	1230	c.1176G>C	c.(1174-1176)atG>atC	p.M392I	C1orf177_ENST00000371273.3_Missense_Mutation_p.M392I	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	392										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCCGGGACATGCTCATGCAGT	0.602000													12	23					0	0	0.000978	0	0
SLC9A6	10479	broad.mit.edu	37	X	135092720	135092720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135092720C>T	ENST00000370695.4	+	7	1054	c.1019C>T	c.(1018-1020)gCt>gTt	p.A340V	SLC9A6_ENST00000370698.3_Missense_Mutation_p.A308V|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A288V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	308					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATGGGTGCTGCTACTGGAGTG	0.388000													28	43					0	0	0.001786	0	0
LPAL2	80350	broad.mit.edu	37	6	160888606	160888606	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:160888606G>A	ENST00000335388.5	-	0	1650					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTGGAACCTGGATAACAGTCG	0.512000													20	13					0	0	0.003330	0	0
FMO1	2326	broad.mit.edu	37	1	171247933	171247933	+	Missense_Mutation	SNP	G	G	A	rs138773316		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171247933G>A	ENST00000354841.4	+	4	681	c.550G>A	c.(550-552)Gac>Aac	p.D184N	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.D184N|FMO1_ENST00000402921.2_Missense_Mutation_p.D121N			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	184					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATATTTAAGGACAAGAGAGT	0.418000													17	15					0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141765190	141765190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:141765190C>T	ENST00000475668.2	+	38	4594	c.4540C>T	c.(4540-4542)Ccc>Tcc	p.P1514S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1514S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1514	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCACATTTCCCTCTTCTGG	0.612000													4	7					0	0	0.000602	0	0
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Silent	SNP	G	G	A	rs140826426	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:201722764G>A	ENST00000434813.2	-	6	1057	c.723C>T	c.(721-723)taC>taT	p.Y241Y	CLK1_ENST00000321356.4_Silent_p.Y199Y|CLK1_ENST00000409769.2_Silent_p.Y22Y	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378000													40	40					0	0	0.004878	0	0
FRMD7	90167	broad.mit.edu	37	X	131234671	131234671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:131234671C>T	ENST00000298542.4	-	2	306	c.131G>A	c.(130-132)gGa>gAa	p.G44E	RP1-305B16.2_ENST00000513703.1_RNA|FRMD7_ENST00000464296.1_Missense_Mutation_p.G44E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	44	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAATTCTAATCCAAAATATTC	0.368000													27	34					0	0	0.001512	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049444	23049444	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:23049444C>T	ENST00000221132.3	-	10	1234	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	390	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCTCATTTTTCGTGAGGTCCA	0.522000													36	24					0	0	0.002836	0	0
RHPN2	85415	broad.mit.edu	37	19	33482762	33482762	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:33482762C>T	ENST00000254260.3	-	13	1646	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	RHPN2_ENST00000400226.4_Silent_p.Q386Q	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	537	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGAAGTGAACCTGAACGGGGG	0.522000													21	18					0	0	0.001523	0	0
PDE11A	50940	broad.mit.edu	37	2	178879178	178879178	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:178879178A>G	ENST00000286063.5	-	2	1239	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	PDE11A_ENST00000358450.4_Missense_Mutation_p.F58L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	308	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCATCATTGAATCGTCGATCC	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial				11	13					0	0	0.001855	0	0
SRRT	51593	broad.mit.edu	37	7	100484782	100484782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100484782C>T	ENST00000388793.4	+	15	2153	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	SRRT_ENST00000457580.2_Missense_Mutation_p.R646W|SRRT_ENST00000347433.4_Missense_Mutation_p.R646W|SRRT_ENST00000432932.1_Missense_Mutation_p.R645W	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	646					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CATCCACGTTCGGGGGCCCAT	0.602000													22	151					0	0	0.003954	0	0
CECR2	27443	broad.mit.edu	37	22	18022175	18022175	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18022175G>A	ENST00000262608.8	+	15	2280	c.2280G>A	c.(2278-2280)acG>acA	p.T760T	CECR2_ENST00000400585.2_Silent_p.T618T|CECR2_ENST00000400573.4_Silent_p.T759T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	801					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATGGTGCTACGAACCAAGGAC	0.552000													8	28					0	0	0.003080	0	0
STAP1	26228	broad.mit.edu	37	4	68424559	68424559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:68424559C>T	ENST00000265404.2	+	1	114	c.32C>T	c.(31-33)cCt>cTt	p.P11L	STAP1_ENST00000396225.1_Missense_Mutation_p.P11L	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	11					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAACCAGCCCCTCGCAGGATC	0.443000													46	44					0	0	0.002522	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055040	72055040	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:72055040T>C	ENST00000555818.1	+	2	799	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S151P|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S151P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	151					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACATGGACTCCAGATTTCT	0.478000													23	35					0	0	0.002780	0	0
OR4K14	122740	broad.mit.edu	37	14	20483167	20483167	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20483167G>A	ENST00000305045.2	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCCCCAGCAGGAAGTACATAG	0.468000													9	14					0	0	0.004482	0	0
VAT1L	57687	broad.mit.edu	37	16	77859317	77859317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:77859317G>A	ENST00000302536.2	+	3	691	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	180							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAACCTCCGGGAAGGGATGTC	0.522000													7	1					0	0	0.001984	0	0
PSD3	23362	broad.mit.edu	37	8	18662313	18662313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:18662313C>T	ENST00000440756.2	-	5	1832	c.1730G>A	c.(1729-1731)gGt>gAt	p.G577D	PSD3_ENST00000523619.1_Missense_Mutation_p.G512D|PSD3_ENST00000327040.8_Missense_Mutation_p.G577D|PSD3_ENST00000286485.8_Missense_Mutation_p.G43D			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	577	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGCTGGTACCATTACTGAG	0.453000													51	75					0	0	0.003610	0	0
IGHJ6	28475	broad.mit.edu	37	14	106329415	106329415	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106329415G>A	ENST00000390560.2	-	0	53																											TACCTGAGGAGACGGTGACCG	0.542000													28	17					0	0	0.002852	0	0
PORCN	64840	broad.mit.edu	37	X	48372724	48372724	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48372724C>T	ENST00000367574.4	+	7	1075	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PORCN_ENST00000355092.3_Silent_p.G266G|PORCN_ENST00000326194.6_Silent_p.G272G|PORCN_ENST00000355961.4_Silent_p.G267G|PORCN_ENST00000537758.1_Silent_p.G272G|PORCN_ENST00000361988.3_Silent_p.G261G|PORCN_ENST00000359882.4_Silent_p.G266G			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	272					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGGGGCTGGCTTTACCGAGG	0.637000													6	23					0	0	0.001168	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049768	69049768	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:69049768G>A	ENST00000295381.3	+	10	1913	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	ARHGAP25_ENST00000479844.1_Silent_p.R192R|ARHGAP25_ENST00000467265.1_Silent_p.R459R|ARHGAP25_ENST00000409220.1_Silent_p.R492R|ARHGAP25_ENST00000409202.3_Silent_p.R499R|ARHGAP25_ENST00000409030.3_Silent_p.R491R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	498					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACTCCCAACGGACTTCCACCT	0.547000													60	59					0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53025792	53025792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:53025792C>T	ENST00000276480.7	-	26	3793	c.3110G>A	c.(3109-3111)aGt>aAt	p.S1037N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTTTGATACTTTCCAGTAG	0.453000													9	37					0	0	0.000673	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426469	26426469	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:26426469G>A	ENST00000466808.2	+	0	785																											TCTCTCCCCAGGACTGGACTC	0.527000													8	3					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179616512	179616512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179616512G>A	ENST00000360870.5	-	46	10837	c.10615C>T	c.(10615-10617)Cat>Tat	p.H3539Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3538	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATTGTTATGAAACCAAGTC	0.388000													8	23					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9071467	9071467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9071467G>A	ENST00000397910.4	-	3	16182	c.15979C>T	c.(15979-15981)Ccc>Tcc	p.P5327S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5329	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCACAGGGGGAGTTGTCATC	0.542000													4	34					0	0	0.000248	0	0
OR10P1	121130	broad.mit.edu	37	12	56031407	56031407	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:56031407C>T	ENST00000309675.2	+	1	764	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCTCCTCCCATCTGCTCG	0.587000													21	52					0	0	0.002299	0	0
ENOX1	55068	broad.mit.edu	37	13	43934166	43934166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:43934166C>T	ENST00000261488.6	-	7	987	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.R137Q|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	137	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCCAGGAGGTCGTTCTCTTGT	0.393000													12	25					0	0	0.001855	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053899	67053899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:67053899C>T	ENST00000295568.4	+	3	561	c.430C>T	c.(430-432)Cga>Tga	p.R144*	KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Nonsense_Mutation_p.R170*|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ACTCGGAGATCGATCAAAAGA	0.378000													13	46					0	0	0.001855	0	0
PKD1	5310	broad.mit.edu	37	16	2154543	2154543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2154543G>A	ENST00000262304.4	-	22	8325	c.8117C>T	c.(8116-8118)aCc>aTc	p.T2706I	PKD1_ENST00000423118.1_Missense_Mutation_p.T2706I|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2706	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGCGTCACGGTGCCCGCGGT	0.692000													3	7					0	0	0.004672	0	0
OR4S2	219431	broad.mit.edu	37	11	55418781	55418781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55418781G>A	ENST00000312422.2	+	1	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGACCATCATGAACCGGGAGA	0.428000													16	3					0	0	0.004007	0	0
SPINK7	84651	broad.mit.edu	37	5	147692067	147692067	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:147692067C>T	ENST00000274565.4	+	1	82	c.21C>T	c.(19-21)ctC>ctT	p.L7L	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	7						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTCTCCTTCTGCTCT	0.458000													18	27					0	0	0.001216	0	0
DNAH9	1770	broad.mit.edu	37	17	11597718	11597718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11597718C>T	ENST00000262442.3	+	22	4894	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1609F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1609	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCTCTCCTCCTCCGATCTG	0.557000													28	7					0	0	0.004656	0	0
ALS2	57679	broad.mit.edu	37	2	202569290	202569290	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:202569290G>A	ENST00000264276.6	-	32	5097	c.4725C>T	c.(4723-4725)atC>atT	p.I1575I	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1575	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAGTCTGCTGGATGACCTTAA	0.408000													15	23					0	0	0.006122	0	0
ADAM19	8728	broad.mit.edu	37	5	156915364	156915364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156915364C>T	ENST00000257527.4	-	21	2537	c.2459G>A	c.(2458-2460)gGg>gAg	p.G820E	ADAM19_ENST00000394020.1_Missense_Mutation_p.G822E|ADAM19_ENST00000430702.2_Missense_Mutation_p.G553E|ADAM19_ENST00000517905.1_Missense_Mutation_p.G820E	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	820					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACCCGGGCCCTGGGGAGTT	0.637000													32	22					0	0	0.001786	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123987692G>A	ENST00000360013.3	+	5	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_ENST00000460856.1_Missense_Mutation_p.E185K|KALRN_ENST00000240874.3_Missense_Mutation_p.E185K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTGGATCGAACTGCGGCT	0.602000													29	18					0	0	0.005443	0	0
SYMPK	8189	broad.mit.edu	37	19	46318911	46318911	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:46318911G>A	ENST00000245934.7	-	27	3976	c.3732C>T	c.(3730-3732)ccC>ccT	p.P1244P	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1244					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGAGGGTCTGGGGGCTCCGCT	0.687000													6	19					0	0	0.001168	0	0
CDH6	1004	broad.mit.edu	37	5	31317550	31317550	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:31317550G>A	ENST00000265071.2	+	10	1846	c.1581G>A	c.(1579-1581)ttG>ttA	p.L527L	CDH6_ENST00000514738.1_Silent_p.L472L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTTTCCTTGGCCCCTGAAG	0.413000													31	44					0	0	0.001786	0	0
TRDV1	28518	broad.mit.edu	37	14	22564744	22564744	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22564744G>A	ENST00000390452.2	+	0	213																											GCAAAGAGATGATTTTCCTTA	0.428000													63	44					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933713	62933713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62933713G>A	ENST00000306494.6	-	7	1087	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	363					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCCCCAAAAAGGGATGGTACT	0.448000													8	10					0	0	0.004482	0	0
MMRN2	79812	broad.mit.edu	37	10	88703170	88703170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:88703170C>T	ENST00000372027.4	-	6	1444	c.1371G>A	c.(1369-1371)atG>atA	p.M457I		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	457						extracellular space		p.E459delE(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTTCTCCTCCATGATCAGAG	0.602000													9	15					0	0	0.004482	0	0
FLNC	2318	broad.mit.edu	37	7	128486888	128486888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486888C>T	ENST00000325888.8	+	24	4478	c.4217C>T	c.(4216-4218)aCc>aTc	p.T1406I	FLNC_ENST00000346177.6_Missense_Mutation_p.T1406I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1406					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTAGCTGCACCGTGGAGTAC	0.612000													9	69					0	0	0.006214	0	0
SLC30A9	10463	broad.mit.edu	37	4	42077787	42077787	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42077787T>C	ENST00000264451.6	+	16	1712	c.1532T>C	c.(1531-1533)tTt>tCt	p.F511S		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	511					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACAAGATTTTGACCAAATG	0.294000													21	17					0	0	0.003954	0	0
GPR112	139378	broad.mit.edu	37	X	135429029	135429029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135429029C>T	ENST00000394143.1	+	6	3455	c.3164C>T	c.(3163-3165)tCc>tTc	p.S1055F	GPR112_ENST00000412101.1_Missense_Mutation_p.S850F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1055F|GPR112_ENST00000394141.1_Missense_Mutation_p.S850F|GPR112_ENST00000287534.4_Missense_Mutation_p.S992F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1055					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAAATCTATCCTCAACTACA	0.473000													39	33					0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9076384	9076384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9076384G>A	ENST00000397910.4	-	3	11265	c.11062C>T	c.(11062-11064)Cct>Tct	p.P3688S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3689	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAATGTCAGGAACTGAGATG	0.433000													13	51					0	0	0.001855	0	0
CASC5	57082	broad.mit.edu	37	15	40942524	40942524	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:40942524G>A	ENST00000346991.5	+	19	6588	c.6198G>A	c.(6196-6198)gaG>gaA	p.E2066E	CASC5_ENST00000399668.2_Silent_p.E2040E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2066	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGGATGAAGAGAAAAACAATC	0.328000													58	39					0	0	0.003610	0	0
AMBN	258	broad.mit.edu	37	4	71472009	71472009	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71472009C>T	ENST00000322937.6	+	13	1009	c.906C>T	c.(904-906)ttC>ttT	p.F302F	AMBN_ENST00000449493.2_Silent_p.F287F	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	302					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCGGTGACTTCACTCTGGAAT	0.577000													15	21					0	0	0.004007	0	0
ADAM29	11086	broad.mit.edu	37	4	175897465	175897465	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:175897465G>A	ENST00000359240.3	+	5	1459	c.789G>A	c.(787-789)agG>agA	p.R263R	ADAM29_ENST00000445694.1_Silent_p.R263R|ADAM29_ENST00000514159.1_Silent_p.R263R|ADAM29_ENST00000404450.4_Silent_p.R263R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	263	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGATGTAAGGAAATCTGTGC	0.403000													31	27					0	0	0.001512	0	0
CREBRF	153222	broad.mit.edu	37	5	172517864	172517864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:172517864C>T	ENST00000540014.1	+	4	1001	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	CREBRF_ENST00000520420.1_Missense_Mutation_p.H228Y|CREBRF_ENST00000522692.1_Missense_Mutation_p.H228Y|CREBRF_ENST00000296953.2_Missense_Mutation_p.H228Y			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	228							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGTGAACTTTCATGTTGAATG	0.418000													13	27					0	0	0.001855	0	0
PRKCH	5583	broad.mit.edu	37	14	61995922	61995922	+	Missense_Mutation	SNP	C	C	T	rs141291003	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:61995922C>T	ENST00000556347.1	+	1	77	c.77C>T	c.(76-78)tCg>tTg	p.S26L	PRKCH_ENST00000332981.5_Silent_p.I521I|PRKCH_ENST00000555082.1_Silent_p.I360I																							CAGACTATATCGCTCCAGAGG	0.527000													28	37					0	0	0.002096	0	0
POTEF	728378	broad.mit.edu	37	2	130878064	130878064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:130878064G>A	ENST00000357462.5	-	1	118	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	POTEF_ENST00000360967.5_Missense_Mutation_p.P9S|POTEF_ENST00000409914.2_Missense_Mutation_p.P9S|POTEF_ENST00000361163.4_Missense_Mutation_p.P9S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	9						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAGGCAGCCGGCATGGAATCA	0.542000													32	89					0	0	0.003610	0	0
KAL1	3730	broad.mit.edu	37	X	8538559	8538559	+	Missense_Mutation	SNP	C	C	T	rs143406724		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:8538559C>T	ENST00000262648.3	-	7	1192	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	348	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTCTTTCTCCGCTTCTTCTT	0.512000													3	14					0	0	0.000248	0	0
KSR2	283455	broad.mit.edu	37	12	117909112	117909112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:117909112C>T	ENST00000425217.1	-	18	2563	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.E866K	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	866	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTGGAGTTCATACCAGATT	0.517000													19	5					0	0	0.004656	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659855	74659855	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:74659855C>T	ENST00000268053.6	-	1	226	c.72G>A	c.(70-72)agG>agA	p.R24R	CYP11A1_ENST00000541301.1_Silent_p.R24R|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	24					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCAGCCCCTCCCTGGGGGCAC	0.642000													35	26					0	0	0.004878	0	0
ESRP1	54845	broad.mit.edu	37	8	95683804	95683804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:95683804C>T	ENST00000433389.2	+	11	1547	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P453S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P453S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P453S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	453	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCGAGGTCTTCCCTATGCAGC	0.488000													254	168					0	0	0.003610	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129151	26129151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:26129151G>A	ENST00000381655.2	+	13	1350	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G363E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	363					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATTATATAGGAAATGACACT	0.403000													15	52					0	0	0.004990	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593648	135593648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:135593648G>A	ENST00000535601.1	+	10	2166	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E582K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	582	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTCTGAAAAGGAGCTTCATGA	0.393000													16	43					0	0	0.003163	0	0
PIGO	84720	broad.mit.edu	37	9	35089444	35089444	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:35089444G>A	ENST00000378617.3	-	10	3467	c.3073C>T	c.(3073-3075)Ctg>Ttg	p.L1025L	PIGO_ENST00000361778.2_Silent_p.L608L|PIGO_ENST00000341666.3_Silent_p.L1025L|PIGO_ENST00000298004.5_Silent_p.L608L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	1025					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCACAGGCCAGAATCTAGAGG	0.517000													56	56					0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071162	240071162	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240071162G>A	ENST00000255380.4	+	5	1190	c.411G>A	c.(409-411)ggG>ggA	p.G137G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	137					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGGCCTTAGGGAACTTGGCCT	0.463000													23	40					0	0	0.002780	0	0
CETN2	1069	broad.mit.edu	37	X	151997134	151997134	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151997134G>A	ENST00000370277.3	-	4	442	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	126	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACGCGTTTCAGATTTTTGAAC	0.418000								Direct reversal of damage;Nucleotide excision repair (NER)					31	63					0	0	0.001786	0	0
MDGA1	266727	broad.mit.edu	37	6	37620006	37620006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:37620006C>T	ENST00000434837.2	-	7	2271	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	MDGA1_ENST00000505425.1_Missense_Mutation_p.E365K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E365K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	365	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCACCTTCTCCTGGGGCACT	0.582000													76	16					0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40384138	40384138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40384138C>T	ENST00000221347.6	-	21	9479	c.9472G>A	c.(9472-9474)Gag>Aag	p.E3158K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3158	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACAGACCTCATAGTGGCTG	0.617000													25	195					0	0	0.001512	0	0
CSMD3	114788	broad.mit.edu	37	8	113254008	113254008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113254008G>A	ENST00000297405.5	-	66	10653	c.10409C>T	c.(10408-10410)tCt>tTt	p.S3470F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3400F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3430F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3301F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3470						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATATTTTAGAACCAGCTAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	32					0	0	0.003610	0	0
ZNF277	11179	broad.mit.edu	37	7	111976201	111976201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:111976201C>T	ENST00000361822.3	+	8	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	282						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413000													7	31					0	0	0.000673	0	0
SHF	90525	broad.mit.edu	37	15	45467505	45467505	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45467505G>A	ENST00000290894.8	-	4	1058	c.564C>T	c.(562-564)tcC>tcT	p.S188S	SHF_ENST00000560471.1_Silent_p.S253S|SHF_ENST00000561091.1_5'UTR|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Silent_p.S245S|SHF_ENST00000560540.1_Silent_p.S253S|SHF_ENST00000458022.2_Silent_p.S51S|SHF_ENST00000560734.1_Silent_p.S253S	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTGGCAGGCGGGACTCCCGGG	0.627000													6	4					0	0	0.001168	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894214	63894214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:63894214C>T	ENST00000334025.2	+	5	960	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	212					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AATGAAAAACCTTTTAAGCAA	0.328000													25	46					0	0	0.003330	0	0
CDH10	1008	broad.mit.edu	37	5	24488197	24488197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:24488197C>T	ENST00000264463.4	-	12	2449	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	648					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGATATCTTCTTTTGACAAG	0.443000										HNSCC(23;0.051)			21	39					0	0	0.002299	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312858	120312858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120312858G>A	ENST00000397843.2	+	15	1415	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E398K|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E314K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	417	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAATTCCAAAGAAACTCGTCG	0.358000			T	MLL	AML								6	11					0	0	0.001984	0	0
C16orf71	146562	broad.mit.edu	37	16	4790201	4790201	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:4790201G>A	ENST00000299320.5	+	4	802	c.324G>A	c.(322-324)caG>caA	p.Q108Q	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.Q122Q	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	108										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGTGCAGACAGAACACAAGGA	0.522000													44	100					0	0	0.003610	0	0
EPHA1	2041	broad.mit.edu	37	7	143095447	143095447	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143095447C>T	ENST00000275815.3	-	7	1517	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	477	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGTCAGGTTCGCCCCAGGGC	0.607000													55	31					0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23810696	23810696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:23810696G>A	ENST00000354639.3	+	14	2181	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	STK31_ENST00000428484.1_Missense_Mutation_p.E573K|STK31_ENST00000433467.2_Missense_Mutation_p.E596K|STK31_ENST00000355870.3_Missense_Mutation_p.E596K|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	596							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCATTCAGAGGAAAGGCTCAT	0.328000													7	77					0	0	0.001984	0	0
NCOR2	9612	broad.mit.edu	37	12	124979739	124979739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124979739G>A	ENST00000356219.3	-	2	214	c.59C>T	c.(58-60)cCg>cTg	p.P20L	NCOR2_ENST00000405201.1_Missense_Mutation_p.P20L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P20L|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.P20L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P20L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	20					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGTGGGGCGGGTAGCGGGG	0.652000													12	18					0	0	0.004007	0	0
OR13A1	79290	broad.mit.edu	37	10	45799154	45799154	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45799154G>A	ENST00000553795.1	-	4	1025	c.717C>T	c.(715-717)atC>atT	p.I239I	OR13A1_ENST00000536058.1_Silent_p.I239I|OR13A1_ENST00000374401.2_Silent_p.I239I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I239I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCTGGAGACGATGAAGCCAT	0.557000													9	65					0	0	0.001368	0	0
WDR72	256764	broad.mit.edu	37	15	53907812	53907812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:53907812G>A	ENST00000396328.1	-	15	2830	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	WDR72_ENST00000557913.1_Missense_Mutation_p.S861F|WDR72_ENST00000360509.5_Missense_Mutation_p.S864F|WDR72_ENST00000559418.1_Missense_Mutation_p.S874F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	864										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AACTTTCCTGGAAAATAAATT	0.353000													4	19					0	0	0.000248	0	0
GLDC	2731	broad.mit.edu	37	9	6589236	6589236	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:6589236G>A	ENST00000321612.6	-	12	1689	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	513					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGTCCTCTTGAACACAGACC	0.502000													35	6					0	0	0.006999	0	0
NUP62	23636	broad.mit.edu	37	19	50411880	50411880	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50411880G>A	ENST00000596217.1	-	2	3072	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Silent_p.F319F|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.F395F|NUP62_ENST00000597029.1_Silent_p.F395F|NUP62_ENST00000422090.2_Silent_p.F395F|NUP62_ENST00000352066.3_Silent_p.F395F			P37198	NUP62_HUMAN	nucleoporin 62kDa	395					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGACAGGATGAAGTCGAGCT	0.597000													26	97					0	0	0.006320	0	0
ZNF648	127665	broad.mit.edu	37	1	182025680	182025680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:182025680G>A	ENST00000339948.3	-	2	1673	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTTCAGGGTCGAAGAGCGGGC	0.667000													11	13					0	0	0.000978	0	0
OR4K1	79544	broad.mit.edu	37	14	20404348	20404348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20404348G>A	ENST00000285600.4	+	1	582	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAATGAGGTGGATAGCTTCTT	0.453000													26	55					0	0	0.002096	0	0
KIAA1109	84162	broad.mit.edu	37	4	123176012	123176012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:123176012C>T	ENST00000264501.4	+	39	6500	c.6127C>T	c.(6127-6129)Ccc>Tcc	p.P2043S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2043S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2043S			Q2LD37	K1109_HUMAN	KIAA1109	2043					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCTTGTTCCCATTGACCA	0.363000													13	7					0	0	0.001855	0	0
NLRP3	114548	broad.mit.edu	37	1	247588527	247588527	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247588527G>A	ENST00000366497.2	+	4	2562	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	NLRP3_ENST00000391827.2_Silent_p.K594K|NLRP3_ENST00000348069.2_Silent_p.K594K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.K594K|NLRP3_ENST00000366496.2_Silent_p.K594K|NLRP3_ENST00000336119.3_Silent_p.K594K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	594					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.K594N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTTGGAGAAGAAATTAAGTT	0.443000													10	36					0	0	0.000673	0	0
DCLK3	85443	broad.mit.edu	37	3	36778777	36778777	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36778777G>A	ENST00000416516.2	-	2	1864	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	458	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATAAGTCCATGATCATGAGGG	0.507000													13	47					0	0	0.003163	0	0
SF3B1	23451	broad.mit.edu	37	2	198274716	198274716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:198274716G>A	ENST00000335508.5	-	7	773	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	228	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTAAGGAAGGAGTATGCCCA	0.403000			Mis		myelodysplastic syndrome								18	29					0	0	0.001216	0	0
FABP5	2171	broad.mit.edu	37	8	82195726	82195726	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:82195726C>T	ENST00000396359.1	+	2	573	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	FABP5_ENST00000297258.6_Silent_p.L69L			Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	69					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			TTCTTGTACCCTGGGAGAGAA	0.423000													14	8					0	0	0.003163	0	0
OR6C76	390326	broad.mit.edu	37	12	55820678	55820678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55820678C>T	ENST00000328314.3	+	1	641	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAATTCTCTCCTATACTTAC	0.378000													9	3					0	0	0.006214	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656544	40656544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:40656544C>T	ENST00000406785.1	-	2	1066	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	SLC8A1_ENST00000405901.3_Missense_Mutation_p.G293R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G293R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G293R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G293R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G293R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCACTTTCCCGTCCATTTCA	0.443000													26	41					0	0	0.006320	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140595	39140595	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:39140595C>T	ENST00000297668.6	-	12	1870	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G	CNTNAP3_ENST00000358144.2_Silent_p.G511G|CNTNAP3_ENST00000323947.7_Silent_p.G506G|CNTNAP3_ENST00000377656.2_Silent_p.G599G|CNTNAP3_ENST00000377659.1_Silent_p.G599G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	599	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGACGGGTTCCCTCGGTGCT	0.458000													42	12					0	0	0.006230	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143708	61143708	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61143708C>T	ENST00000475015.1	-	0	630				C20orf166-AS1_ENST00000412495.1_RNA																							TGGTGTGGCCCCGTGGGAAGC	0.652000													60	77					0	0	0.003610	0	0
AMY2B	280	broad.mit.edu	37	1	104121965	104121965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:104121965C>T	ENST00000361355.4	+	12	1995	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	460					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACTGGTCTTCCTGCTGGCACA	0.338000													43	346					0	0	0.002522	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400816	11400816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:11400816G>A	ENST00000002596.5	-	2	1988	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	272						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGGTGCGCCCGGCCTTTGGAC	0.493000													43	24					0	0	0.006999	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864151	144864151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:144864151G>A	ENST00000369359.4	-	39	6390	c.6352C>T	c.(6352-6354)Cag>Tag	p.Q2118*	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2067*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q1982*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q1982*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q1876*|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1982					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGTTTTCCTGGAGGGAAAGA	0.483000			T	PDGFRB	MPD								46	248					0	0	0.003610	0	0
CUX1	1523	broad.mit.edu	37	7	101844895	101844895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:101844895C>T	ENST00000360264.3	+	18	2371	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	CUX1_ENST00000556210.1_Missense_Mutation_p.A615V|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.A751V|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A773V|CUX1_ENST00000550008.2_Missense_Mutation_p.A717V|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A671V|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	773					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCTCCTGAGGCCGGTGCCTCT	0.677000													42	99					0	0	0.002222	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873102	37873102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:37873102G>A	ENST00000295324.3	-	2	1629	c.629C>T	c.(628-630)cCa>cTa	p.P210L	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	210					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GAGCTCGCATGGGGTGGGATG	0.572000													19	38					0	0	0.001216	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067130	18067130	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:18067130G>A	ENST00000506618.2	-	1	356	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	92					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GGGCATAAGGGAAGCATGGGA	0.468000													123	70					0	0	0.003610	0	0
ZNF552	79818	broad.mit.edu	37	19	58319928	58319928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:58319928G>A	ENST00000391701.1	-	3	873	c.704C>T	c.(703-705)cCt>cTt	p.P235L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCTTCTGTAGGGAGCAGTCT	0.428000													33	8					0	0	0.002836	0	0
OR13A1	79290	broad.mit.edu	37	10	45798888	45798888	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45798888T>A	ENST00000553795.1	-	4	1291	c.983A>T	c.(982-984)aAt>aTt	p.N328I	OR13A1_ENST00000536058.1_Missense_Mutation_p.N328I|OR13A1_ENST00000374401.2_Missense_Mutation_p.N328I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CACAAGTTAATTTCTGAAGAA	0.433000													49	22					0	0	0.003610	0	0
SRCAP	10847	broad.mit.edu	37	16	30727693	30727693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30727693C>T	ENST00000262518.4	+	18	3095	c.2710C>T	c.(2710-2712)Cca>Tca	p.P904S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P904S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P904S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	904					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTGCAATCATCCAAATCTGTT	0.502000													129	287					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61829982	61829982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61829982C>T	ENST00000280772.1	-	37	10848	c.10657G>A	c.(10657-10659)Gaa>Aaa	p.E3553K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3553					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAAAACTTCATCATCCCCT	0.448000													20	12					0	0	0.001216	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603809	140603809	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140603809G>A	ENST00000239449.4	+	1	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q	PCDHB14_ENST00000515856.2_Silent_p.Q91Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTCCTCAGAGTCTCTATG	0.507000													40	33					0	0	0.002222	0	0
EDIL3	10085	broad.mit.edu	37	5	83433158	83433158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:83433158C>T	ENST00000296591.5	-	5	788	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EDIL3_ENST00000380138.3_Missense_Mutation_p.E114K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	124	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGCTCAACTTCGCATTCATTT	0.333000													15	25					0	0	0.002450	0	0
SPEF2	79925	broad.mit.edu	37	5	35771817	35771817	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35771817A>C	ENST00000440995.2	+	27	3893	c.3893A>C	c.(3892-3894)aAg>aCg	p.K1298T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K1303T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1303					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGTCAAAAAGGAGCCACCC	0.408000													12	13					0	0	0.001368	0	0
XIRP2	129446	broad.mit.edu	37	2	168106316	168106316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168106316G>A	ENST00000409195.1	+	9	8503	c.8414G>A	c.(8413-8415)aGa>aAa	p.R2805K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2805K|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2583K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2630					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAGCAAAGAGAATTTAGC	0.403000													13	10					0	0	0.002450	0	0
ESX1	80712	broad.mit.edu	37	X	103495543	103495543	+	Missense_Mutation	SNP	C	C	T	rs144948361		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:103495543C>T	ENST00000372588.4	-	4	670	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	196					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCTCTGATTTCGTTTCCACTT	0.433000													60	142					0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	97185321	97185321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:97185321C>T	ENST00000514100.1	+	4	307	c.65C>T	c.(64-66)gCc>gTc	p.A22V	EPHA6_ENST00000442602.2_Intron|EPHA6_ENST00000502694.1_Missense_Mutation_p.A22V|EPHA6_ENST00000389672.5_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	533						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						gactttattgcctcaggtaac	0.413000													12	14					0	0	0.002450	0	0
ASCC1	51008	broad.mit.edu	37	10	73956619	73956619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:73956619G>A	ENST00000342444.4	-	6	624	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	ASCC1_ENST00000394919.1_Nonsense_Mutation_p.Q147*|ASCC1_ENST00000394915.3_Nonsense_Mutation_p.Q175*|ASCC1_ENST00000545550.1_Nonsense_Mutation_p.Q169*|ASCC1_ENST00000317168.6_Nonsense_Mutation_p.Q147*|ASCC1_ENST00000317126.4_Nonsense_Mutation_p.Q147*	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						AATCCTTCCTGAACCTCAACT	0.408000													4	11					0	0	0.000248	0	0
ANK3	288	broad.mit.edu	37	10	61847919	61847919	+	Nonsense_Mutation	SNP	G	G	A	rs142673853		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61847919G>A	ENST00000280772.1	-	29	3717	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	ANK3_ENST00000355288.2_Nonsense_Mutation_p.R310*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1170*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1177*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1176					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R1176*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCCCACTCGAATTCTTTTA	0.468000													23	25					0	0	0.005443	0	0
ABCG2	9429	broad.mit.edu	37	4	89052264	89052264	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:89052264C>T	ENST00000237612.3	-	5	1025	c.480G>A	c.(478-480)cgG>cgA	p.R160R	ABCG2_ENST00000515655.1_Silent_p.R160R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	160	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCCTGTTAATCCGTTCGTTTT	0.423000													45	46					0	0	0.003214	0	0
CHST1	8534	broad.mit.edu	37	11	45671632	45671632	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45671632T>C	ENST00000308064.2	-	4	1512	c.842A>G	c.(841-843)aAc>aGc	p.N281S		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	281					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGACACGGAGTTGGAGAAGTC	0.637000													24	30					0	0	0.005443	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552726	173552726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:173552726C>T	ENST00000367714.3	-	6	981	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.E85K	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	187					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATCAATGATTCTCCTCTAATG	0.318000													29	28					0	0	0.002096	0	0
TENM3	55714	broad.mit.edu	37	4	183713753	183713753	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:183713753C>T	ENST00000511685.1	+	26	6051	c.5928C>T	c.(5926-5928)gtC>gtT	p.V1976V	TENM3_ENST00000406950.2_Silent_p.V1976V					teneurin transmembrane protein 3																		CAGCAGGAGTCCTAAAGACAG	0.413000													99	65					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683198	100683198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100683198C>T	ENST00000306151.4	+	3	8565	c.8501C>T	c.(8500-8502)cCt>cTt	p.P2834L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2834	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACACC	0.493000													142	105					0	0	0.003610	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800287	34800287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:34800287G>A	ENST00000338074.2	+	16	2334	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	EPB41L1_ENST00000373941.1_Missense_Mutation_p.D725N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D651N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D616N|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D651N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.D545N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	725					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCGCTATGGATAACACCCA	0.537000													32	61					0	0	0.002096	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51771841	51771841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51771841G>A	ENST00000316401.7	+	6	965	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.R101Q	NM_173635.1	NP_775906.1			SIGLEC family like 1																		CAAGATAAACGAGCCAGCTAA	0.418000													23	20					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82585122	82585122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585122C>T	ENST00000423517.2	-	5	5484	c.5147G>A	c.(5146-5148)gGa>gAa	p.G1716E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1716E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1647					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTCGAAGATCCCTCTCCCCT	0.453000													12	44					0	0	0.000978	0	0
COBL	23242	broad.mit.edu	37	7	51096928	51096928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:51096928C>T	ENST00000395542.2	-	12	2295	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	COBL_ENST00000265136.7_Missense_Mutation_p.G622E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	622										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATTAGATTCCCATCTTTAGA	0.488000													20	77					0	0	0.001523	0	0
SCLT1	132320	broad.mit.edu	37	4	129809847	129809847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:129809847G>A	ENST00000281142.5	-	20	2494	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	SCLT1_ENST00000434680.1_Missense_Mutation_p.S283L|SCLT1_ENST00000439369.2_Missense_Mutation_p.S151L|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.S260L	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	664						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGGGAAGCTGAAGCAGCTCT	0.383000													12	42					0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38835425	38835425	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38835425T>G	ENST00000449082.2	-	1	76	c.77A>C	c.(76-78)aAg>aCg	p.K26T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	26					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCAATTTGCTTCTCTATCTC	0.498000													12	58					0	0	0.001368	0	0
CILP	8483	broad.mit.edu	37	15	65489678	65489678	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:65489678C>T	ENST00000261883.4	-	9	3112	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	982					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATACAGCTTCCCCACTGTCT	0.557000													37	15					0	0	0.005524	0	0
C5AR2	27202	broad.mit.edu	37	19	47844691	47844691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:47844691C>T	ENST00000595464.1	+	2	853	c.635C>T	c.(634-636)cCc>cTc	p.P212L	C5AR2_ENST00000600626.1_Missense_Mutation_p.P212L|C5AR2_ENST00000257267.2_Missense_Mutation_p.P212L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		TTCCTGGGGCCCCTGGTGGCC	0.662000													46	34					0	0	0.003214	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069409	241069409	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:241069409G>A	ENST00000307266.3	-	4	299	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CGGGAACCATGGAGGACTGCT	0.607000													22	34					0	0	0.001882	0	0
IFI44L	10964	broad.mit.edu	37	1	79095560	79095560	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:79095560A>T	ENST00000342282.3	+	0	332				IFI44L_ENST00000370751.4_Missense_Mutation_p.Q228L|IFI44L_ENST00000476521.1_3'UTR			Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGACTGGCCAAGCCGTAGTG	0.393000													16	18					0	0	0.006122	0	0
AC096579.13	0	broad.mit.edu	37	2	89160271	89160271	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:89160271C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							AATTTTCTATCCCTTACTCAT	0.373000													12	7					0	0	0.000978	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802869	124802869	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124802869G>A	ENST00000423114.2	-	14	2096	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	SLC12A8_ENST00000469902.1_Silent_p.I670I|SLC12A8_ENST00000314584.7_Silent_p.I331I|SLC12A8_ENST00000430155.2_Silent_p.I471I|SLC12A8_ENST00000393469.4_Silent_p.I670I|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	670					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCGCCAAGATGATCTGCTCCT	0.567000													14	4					0	0	0.003163	0	0
C10orf71	118461	broad.mit.edu	37	10	50531812	50531812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50531812G>A	ENST00000374144.3	+	3	1510	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S	C10orf71_ENST00000323868.4_Missense_Mutation_p.G408S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	408										endometrium(1)	1						CAACCAGAGAGGCCCACCTTT	0.468000													31	25					0	0	0.003271	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910900	101910900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:101910900C>T	ENST00000537097.1	+	6	2872	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	GPRASP1_ENST00000415986.1_Missense_Mutation_p.P687S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P687S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P687S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	687	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGTATGTATCCTGCCGGTGG	0.478000													37	104					0	0	0.004878	0	0
EDA2R	60401	broad.mit.edu	37	X	65824340	65824340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:65824340C>T	ENST00000374719.3	-	4	331	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	EDA2R_ENST00000396050.1_Missense_Mutation_p.R92Q|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Missense_Mutation_p.R92Q|EDA2R_ENST00000456230.2_Missense_Mutation_p.R92Q|EDA2R_ENST00000253392.5_Missense_Mutation_p.R92Q	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	92					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCGTGTCTTTCGGTAGAACCT	0.512000													12	35					0	0	0.001855	0	0
TUB	7275	broad.mit.edu	37	11	8117065	8117065	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:8117065C>T	ENST00000305253.4	+	6	824	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	TUB_ENST00000299506.2_Silent_p.L140L|TUB_ENST00000534099.1_Silent_p.L146L	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	140					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCCAGCAGCACTGGCAGAAGA	0.642000													19	21					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	113326807	113326807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113326807C>T	ENST00000297405.5	-	48	7644	c.7400G>A	c.(7399-7401)gGa>gAa	p.G2467E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2397E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2427E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2363E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2467	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATATGACTCCAGTAGAATC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	25					0	0	0.001368	0	0
MS4A1	931	broad.mit.edu	37	11	60235761	60235761	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:60235761G>A	ENST00000534668.1	+	7	1003	c.714G>A	c.(712-714)caG>caA	p.Q238Q	MS4A1_ENST00000345732.4_Silent_p.Q238Q|MS4A1_ENST00000528313.1_Silent_p.Q71Q|MS4A1_ENST00000532073.1_Silent_p.Q225Q|MS4A1_ENST00000389939.2_Silent_p.Q238Q	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	238					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AAAAAGAACAGACTATTGAAA	0.338000													4	10					0	0	0.000602	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	C	T	rs140525529		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10297626C>T	ENST00000403437.2	-	35	5200	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	11					0	0	0.003610	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764194	83764194	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:83764194C>T	ENST00000265362.3	-	2	500	c.186G>A	c.(184-186)ttG>ttA	p.L62L	SEMA3A_ENST00000436949.1_Silent_p.L62L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	62	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTTCCTCATCCAAAAGGAAGG	0.388000													40	17					0	0	0.001951	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044191	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:71044191T>G	ENST00000272367.2	-	4	398	c.322A>C	c.(322-324)Aaa>Caa	p.K108Q	CLEC4F_ENST00000426626.1_Missense_Mutation_p.K108Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	108					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGG	0.498000													23	25					0	0	0.002299	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431549	107431549	+	Missense_Mutation	SNP	C	C	T	rs71566741		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:107431549C>T	ENST00000340010.5	-	5	698	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E137K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	172					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTCACCCTCTCGTCATCCAGT	0.493000													9	44					0	0	0.004482	0	0
DLG3	1741	broad.mit.edu	37	X	69669258	69669258	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:69669258A>C	ENST00000194900.4	+	4	853	c.512A>C	c.(511-513)cAt>cCt	p.H171P	DLG3_ENST00000374360.3_Missense_Mutation_p.H153P			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	153	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GACAATCCCCATGTCCCTGAT	0.567000													38	42					0	0	0.005524	0	0
AHNAK	79026	broad.mit.edu	37	11	62295345	62295345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62295345G>A	ENST00000378024.4	-	5	6818	c.6544C>T	c.(6544-6546)Ccc>Tcc	p.P2182S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2182					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGTCTTGAAG	0.483000													56	95					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13763005	13763005	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13763005G>A	ENST00000265104.4	-	60	10211	c.10107C>T	c.(10105-10107)ttC>ttT	p.F3369F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3369	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F3369L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCTTTTGGGAATTGCTATG	0.368000									Kartagener syndrome				24	23					0	0	0.005443	0	0
ITPR3	3710	broad.mit.edu	37	6	33656171	33656171	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33656171C>T	ENST00000374316.5	+	49	7591	c.6531C>T	c.(6529-6531)ttC>ttT	p.F2177F	ITPR3_ENST00000605930.1_Silent_p.F2177F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2177					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGTCCTCCTTCCTGCACAACG	0.607000													29	6					0	0	0.007291	0	0
TTF2	8458	broad.mit.edu	37	1	117629057	117629057	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:117629057C>T	ENST00000369466.3	+	12	2117	c.2073C>T	c.(2071-2073)atC>atT	p.I691I		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	691	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATATGACATCGTGATCACTA	0.468000													7	19					0	0	0.001984	0	0
PKP2	5318	broad.mit.edu	37	12	33030950	33030950	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:33030950G>A	ENST00000340811.4	-	3	972	c.864C>T	c.(862-864)tcC>tcT	p.S288S	PKP2_ENST00000070846.6_Silent_p.S288S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	288					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GATGCCAGGAGGACCTGGAAG	0.647000													25	10					0	0	0.004656	0	0
NPTX2	4885	broad.mit.edu	37	7	98257929	98257929	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98257929C>T	ENST00000265634.3	+	5	1449	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	428	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGCGTCTCCTTGACTTGT	0.582000													11	4					0	0	0.001368	0	0
TKTL1	8277	broad.mit.edu	37	X	153556243	153556243	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153556243C>T	ENST00000369915.3	+	12	1746	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	TKTL1_ENST00000217905.7_Silent_p.I259I|TKTL1_ENST00000369912.2_Silent_p.I463I|TKTL1_ENST00000482044.1_3'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	519				I -> N (in Ref. 6; AAA21557).	glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGCCACCATCGTCTCCAGTG	0.478000													63	103					0	0	0.003610	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719102	140719102	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140719102G>A	ENST00000394576.2	+	1	564	c.564G>A	c.(562-564)ggG>ggA	p.G188G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGATGGGAACAAGTACC	0.577000													43	26					0	0	0.002852	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357683	63357683	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:63357683G>A	ENST00000323646.5	-	3	630	c.276C>T	c.(274-276)atC>atT	p.I92I	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Silent_p.I92I	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	92					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						CCCGCTGGATGATTTTGCTGC	0.552000													15	25					0	0	0.004007	0	0
OR8D1	283159	broad.mit.edu	37	11	124180455	124180455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124180455C>T	ENST00000357821.2	-	1	278	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70N(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TAGCAGAAATCGACGAAGGAC	0.468000													7	9					0	0	0.001984	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678508	48678508	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48678508G>A	ENST00000352832.5	+	18	4191	c.3819G>A	c.(3817-3819)gaG>gaA	p.E1273E	CACNA1G_ENST00000514717.1_Silent_p.E1273E|CACNA1G_ENST00000514181.1_Silent_p.E1296E|CACNA1G_ENST00000503485.1_Silent_p.E1296E|CACNA1G_ENST00000514079.1_Silent_p.E1296E|CACNA1G_ENST00000442258.2_Silent_p.E1273E|CACNA1G_ENST00000510366.1_Silent_p.E1296E|CACNA1G_ENST00000505165.1_Silent_p.E1296E|CACNA1G_ENST00000507896.1_Silent_p.E1296E|CACNA1G_ENST00000507336.1_Silent_p.E1296E|CACNA1G_ENST00000515765.1_Silent_p.E1296E|CACNA1G_ENST00000515411.1_Silent_p.E1296E|CACNA1G_ENST00000507510.2_Silent_p.E1296E|CACNA1G_ENST00000513964.1_Silent_p.E1296E|CACNA1G_ENST00000359106.5_Silent_p.E1296E|CACNA1G_ENST00000429973.2_Silent_p.E1296E|CACNA1G_ENST00000360761.4_Silent_p.E1273E|CACNA1G_ENST00000513689.2_Silent_p.E1296E|CACNA1G_ENST00000507609.1_Silent_p.E1296E|CACNA1G_ENST00000502264.1_Silent_p.E1273E|CACNA1G_ENST00000416767.4_Silent_p.E1296E|CACNA1G_ENST00000512389.1_Silent_p.E1296E|CACNA1G_ENST00000515165.1_Silent_p.E1296E|CACNA1G_ENST00000510115.1_Silent_p.E1273E|CACNA1G_ENST00000358244.5_Silent_p.E1273E|CACNA1G_ENST00000354983.4_Silent_p.E1273E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1296					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGCCATGGAGCGCCCCAAAA	0.592000													70	10					0	0	0.003610	0	0
TBX15	6913	broad.mit.edu	37	1	119427608	119427608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:119427608C>T	ENST00000369429.3	-	8	1565	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	TBX15_ENST00000207157.3_Missense_Mutation_p.G413E			Q96SF7	TBX15_HUMAN	T-box 15	519						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAATTGTATCCATACAGGTT	0.537000													11	5					0	0	0.000978	0	0
TRPC7	57113	broad.mit.edu	37	5	135602050	135602050	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:135602050T>C	ENST00000513104.1	-	5	1485	c.1203A>G	c.(1201-1203)ttA>ttG	p.L401L	TRPC7_ENST00000426057.2_Silent_p.L285L|TRPC7_ENST00000355180.3_Silent_p.L340L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	401					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACAACTAATAATCCCAAGA	0.408000													16	17					0	0	0.003163	0	0
HTRA3	94031	broad.mit.edu	37	4	8271918	8271918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:8271918G>A	ENST00000307358.2	+	1	427	c.223G>A	c.(223-225)Gag>Aag	p.E75K	HTRA3_ENST00000382512.3_Missense_Mutation_p.E75K	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	75	IGFBP N-terminal.|Kazal-like.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CGAGAGCCTGGAGTGCGTGCG	0.731000													6	5					0	0	0.001984	0	0
VARS	7407	broad.mit.edu	37	6	31748222	31748222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:31748222G>A	ENST00000375663.3	-	25	3361	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	974					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTTACCTGGGAGGTGGGTGA	0.592000													258	49					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228509638	228509638	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228509638C>T	ENST00000570156.2	+	66	18041	c.17967C>T	c.(17965-17967)ttC>ttT	p.F5989F	OBSCN_ENST00000366707.4_Silent_p.F2666F|OBSCN_ENST00000284548.11_Silent_p.F5032F|OBSCN_ENST00000422127.1_Silent_p.F5032F|OBSCN_ENST00000366709.4_Silent_p.F2151F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5032	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGCTCTTCCTGAGTGCAG	0.622000													7	13					0	0	0.001984	0	0
SCARA3	51435	broad.mit.edu	37	8	27516431	27516431	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:27516431C>T	ENST00000301904.3	+	5	764	c.744C>T	c.(742-744)ctC>ctT	p.L248L	SCARA3_ENST00000337221.4_Silent_p.L248L	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	248					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCCTGACCCTCCAGAAGATTG	0.592000													21	15					0	0	0.003330	0	0
NCOR2	9612	broad.mit.edu	37	12	124841213	124841213	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124841213G>A	ENST00000356219.3	-	24	3392	c.3237C>T	c.(3235-3237)ccC>ccT	p.P1079P	NCOR2_ENST00000405201.1_Silent_p.P1072P|NCOR2_ENST00000397355.1_Silent_p.P1063P|NCOR2_ENST00000404121.2_Silent_p.P633P|NCOR2_ENST00000429285.2_Silent_p.P1062P|NCOR2_ENST00000404621.1_Silent_p.P1062P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1080					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGAAGGCTGAGGGGTCCGGGG	0.652000													31	9					0	0	0.004878	0	0
GPR39	2863	broad.mit.edu	37	2	133175080	133175080	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133175080G>A	ENST00000329321.3	+	1	934	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	155						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAAGCTGCTGATTGGCTTCG	0.617000													13	19					0	0	0.002450	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821485	40821485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:40821485C>T	ENST00000293349.6	-	12	2589	c.2159G>A	c.(2158-2160)aGg>aAg	p.R720K	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R723K|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R546K			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	723	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCTCCCACCCTCAAGGCCAG	0.622000													39	6					0	0	0.002222	0	0
FOXA2	3170	broad.mit.edu	37	20	22563463	22563463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:22563463C>T	ENST00000419308.2	-	2	601	c.399G>A	c.(397-399)atG>atA	p.M133I	FOXA2_ENST00000319993.4_Missense_Mutation_p.M139I|FOXA2_ENST00000377115.4_Missense_Mutation_p.M133I	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	133					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ACATGGGGCTCATGGAGTTCA	0.716000													38	53					0	0	0.007835	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252455	145252455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:145252455G>A	ENST00000377976.1	-	1	76	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	26										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACCGCTGTAGGAGGAGGAGAT	0.473000													32	44					0	0	0.002836	0	0
ADRB1	153	broad.mit.edu	37	10	115804334	115804334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:115804334C>T	ENST00000369295.2	+	1	529	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	148					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	AGCATCGAGACCCTGTGTGTC	0.687000													53	45					0	0	0.003610	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834348	101834348	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:101834348C>T	ENST00000506729.1	-	1	372	c.201G>A	c.(199-201)agG>agA	p.R67R	SLCO6A1_ENST00000389019.3_Silent_p.R67R|SLCO6A1_ENST00000513675.1_Silent_p.R67R|SLCO6A1_ENST00000379810.1_Silent_p.R67R|SLCO6A1_ENST00000379807.3_Silent_p.R67R|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	67						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGCTTTTTTCCTTTTTCGGA	0.537000													73	72					0	0	0.003610	0	0
FGFR2	2263	broad.mit.edu	37	10	123245036	123245036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:123245036C>T	ENST00000358487.5	-	16	2340	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ATTAACACCCCGAAGGACCAG	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				8	21					0	0	0.004482	0	0
XKR7	343702	broad.mit.edu	37	20	30584557	30584557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:30584557G>A	ENST00000217299.3	+	3	1211	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	346						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTCATCCAAGGGGAGACGGAC	0.567000													41	36					0	0	0.006999	0	0
ROBO3	64221	broad.mit.edu	37	11	124740159	124740159	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124740159C>T	ENST00000397801.1	+	5	1057	c.865C>T	c.(865-867)Cta>Tta	p.L289L	ROBO3_ENST00000538940.1_Silent_p.L267L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	289	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCACCTCGTCTACGCTGGCG	0.587000													11	23					0	0	0.000978	0	0
SORBS2	8470	broad.mit.edu	37	4	186545288	186545288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:186545288G>A	ENST00000431808.1	-	14	1846	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P332L|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P428L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P528L|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	428						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCGAACCTCCGGGACGTAGGG	0.597000													18	44					0	0	0.001523	0	0
CD1E	913	broad.mit.edu	37	1	158325781	158325781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158325781G>A	ENST00000444681.2	+	3	786	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.D174N|CD1E_ENST00000368166.3_Missense_Mutation_p.D75N|CD1E_ENST00000452291.2_Missense_Mutation_p.D75N|CD1E_ENST00000368161.3_Missense_Mutation_p.D264N|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.D174N|CD1E_ENST00000434258.1_Missense_Mutation_p.D262N|CD1E_ENST00000368164.3_Missense_Mutation_p.D75N|CD1E_ENST00000368167.3_Missense_Mutation_p.D264N|CD1E_ENST00000368160.3_Missense_Mutation_p.D264N	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	264					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCCTAATGCTGACGAGACATG	0.617000													27	56					0	0	0.005443	0	0
PANX1	24145	broad.mit.edu	37	11	93913320	93913320	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:93913320C>T	ENST00000227638.3	+	4	1483	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	PANX1_ENST00000436171.2_Silent_p.L366L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	366					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGCTACTCCTGACAAACC	0.473000													8	14					0	0	0.003080	0	0
AQP9	366	broad.mit.edu	37	15	58465384	58465384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:58465384C>T	ENST00000219919.4	+	3	726	c.356C>T	c.(355-357)aCc>aTc	p.T119I	AQP9_ENST00000558772.1_Missense_Mutation_p.T54I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T119I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	119					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGGGCTGCAACCGTCTTTGGC	0.468000													23	112					0	0	0.006320	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748833	101748833	+	Missense_Mutation	SNP	C	C	T	rs141543083		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:101748833C>T	ENST00000506729.1	-	9	1658	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G434E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G243E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G243E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G496E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	496	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGTGAGGTTTCCCAACTTCCC	0.318000													22	15					0	0	0.001882	0	0
CTLA4	1493	broad.mit.edu	37	2	204735491	204735491	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:204735491C>T	ENST00000302823.3	+	2	449	c.292C>T	c.(292-294)Cta>Tta	p.L98L	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Silent_p.L98L|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000427473.2_Silent_p.L61L	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	98	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	GTTGACCTTCCTAGATGATTC	0.547000													25	64					0	0	0.005443	0	0
UBN1	29855	broad.mit.edu	37	16	4927460	4927460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:4927460C>T	ENST00000396658.4	+	16	4043	c.3340C>T	c.(3340-3342)Ccg>Tcg	p.P1114S	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1114S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1114					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACCCATATCCCGCAGAGTCT	0.632000													54	124					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82583596	82583596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82583596C>T	ENST00000423517.2	-	5	7010	c.6673G>A	c.(6673-6675)Gaa>Aaa	p.E2225K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2225K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2156					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAAATTTCCTCAGAATCT	0.403000													15	12					0	0	0.003163	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667000													4	64					0	0	0.000248	0	0
PCDH17	27253	broad.mit.edu	37	13	58208265	58208265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:58208265C>T	ENST00000377918.3	+	1	1611	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCTGTGAATCCCACGAACGG	0.597000													13	27					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55534795	55534795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55534795G>A	ENST00000220676.1	+	3	882	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	245					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATTACCAGGGATCTCTCAG	0.438000													10	46					0	0	0.000978	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954765	72954765	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:72954765G>A	ENST00000421285.3	+	11	1020	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	340										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGAGACTCCAGGAGCAGGAGG	0.562000													68	67					0	0	0.003610	0	0
OR11G2	390439	broad.mit.edu	37	14	20666099	20666099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20666099C>T	ENST00000357366.3	+	1	605	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCAACATCTCCCAAATGTCC	0.448000													15	37					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	90012448	90012448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:90012448G>A	ENST00000405460.2	+	43	9445	c.9349G>A	c.(9349-9351)Gtt>Att	p.V3117I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3117					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAGTGACAGTTCAGTTCAT	0.413000													15	30					0	0	0.003163	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040026	102040026	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102040026C>T	ENST00000496391.1	+	7	1547	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_Silent_p.F22F|PRKRIP1_ENST00000397912.3_Silent_p.F79F|PRKRIP1_ENST00000354783.4_Silent_p.F41F			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	79	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						GTGGAGAGTTCCACGTGTACA	0.547000													25	100					0	0	0.003954	0	0
FLNC	2318	broad.mit.edu	37	7	128486806	128486806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486806G>A	ENST00000325888.8	+	24	4396	c.4135G>A	c.(4135-4137)Ggc>Agc	p.G1379S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1379S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1379					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGGGAGCGGGCACCGGGGG	0.592000													54	20					0	0	0.003610	0	0
TMEM199	147007	broad.mit.edu	37	17	26687783	26687783	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26687783C>T	ENST00000292114.3	+	5	534	c.444C>T	c.(442-444)atC>atT	p.I148I	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.I148I|TMEM199_ENST00000395404.3_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	148						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTCTGGTCATCACCATCTTCA	0.493000													84	10					0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112200	64112200	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64112200C>T	ENST00000356786.5	+	14	2231	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	729					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGGAGGCCCTCAGGGAGG	0.622000													13	24					0	0	0.004007	0	0
HCAR1	27198	broad.mit.edu	37	12	123214855	123214855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:123214855C>T	ENST00000432564.1	-	1	274	c.32G>A	c.(31-33)gGg>gAg	p.G11E	HCAR1_ENST00000436083.2_Missense_Mutation_p.G11E|HCAR1_ENST00000356987.2_Missense_Mutation_p.G11E	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	11					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GATGGTGTCCCCCTCGATGCG	0.617000													14	5					0	0	0.004007	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210098	75210098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:75210098C>T	ENST00000413679.2	+	17	2444	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F	SEC14L1_ENST00000443798.4_Missense_Mutation_p.S714F|SEC14L1_ENST00000591437.1_Missense_Mutation_p.S680F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.S714F|SEC14L1_ENST00000436233.4_Missense_Mutation_p.S714F|SEC14L1_ENST00000431431.2_Missense_Mutation_p.S680F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.S714F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.S714F	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	714					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCATGATCTCCAGGTAGTGC	0.667000													35	69					0	0	0.004878	0	0
NRP2	8828	broad.mit.edu	37	2	206656988	206656988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:206656988G>A	ENST00000360409.3	+	16	3261	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000357785.5_Missense_Mutation_p.G819R|NRP2_ENST00000540178.1_Missense_Mutation_p.G819R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	824					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGAGAGAGAAGGATATGAAGA	0.333000													21	49					0	0	0.003954	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476978	20476978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20476978G>A	ENST00000573854.1	+	3	431	c.317G>A	c.(316-318)gGg>gAg	p.G106E	ACSM2A_ENST00000575690.1_Missense_Mutation_p.G106E|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G106E|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G27E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G106E|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G106E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGCAGCGTGGGGATCGTGTG	0.572000													10	23					0	0	0.000673	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346610	70346610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:70346610C>T	ENST00000305107.6	-	6	1375	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M307I|UGT2B4_ENST00000512583.1_Silent_p.*370*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	443					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGATAATTTCATAGCATTCT	0.418000													16	46					0	0	0.006122	0	0
CHRNA9	55584	broad.mit.edu	37	4	40350969	40350969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40350969G>A	ENST00000310169.2	+	4	575	c.436G>A	c.(436-438)Gat>Aat	p.D146N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	146					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GATCACCTGGGATGCACCGGC	0.507000													28	39					0	0	0.006320	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103885	55103885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55103885G>A	ENST00000374971.1	+	4	299	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PAGE2B_ENST00000374974.3_Missense_Mutation_p.E66K	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	83										lung(3)	3						GATAGAGGATGAGCCTGGAGA	0.403000													28	28					0	0	0.003271	0	0
OR8K5	219453	broad.mit.edu	37	11	55927077	55927077	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55927077G>A	ENST00000313447.1	-	1	716	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AACCACATGTGGAGAAAGCCT	0.408000													4	13					0	0	0.000248	0	0
CST9L	128821	broad.mit.edu	37	20	23545669	23545669	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:23545669G>A	ENST00000376979.3	-	3	658	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	120						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGAAGCAGGTGAAAGTCTGAG	0.542000													35	45					0	0	0.004878	0	0
BCAS1	8537	broad.mit.edu	37	20	52645107	52645107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:52645107C>T	ENST00000395961.3	-	4	713	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCAS1_ENST00000371435.2_Missense_Mutation_p.E183K|BCAS1_ENST00000411563.1_Missense_Mutation_p.E86K|BCAS1_ENST00000371440.3_Missense_Mutation_p.E183K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	183						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAGGGAGCTTCTCCTCCTGCT	0.582000													68	83					0	0	0.003610	0	0
RAET1L	154064	broad.mit.edu	37	6	150342228	150342228	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:150342228G>A	ENST00000367341.1	-	3	443	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RAET1L_ENST00000286380.2_Silent_p.F148F			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	148	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CAAAGAGTAGGAAGGTCTGTC	0.502000													104	19					0	0	0.003610	0	0
STOX2	56977	broad.mit.edu	37	4	184938369	184938369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:184938369C>T	ENST00000308497.4	+	4	4148	c.2713C>T	c.(2713-2715)Ccg>Tcg	p.P905S		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	905					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CGCGGAGCCCCCGACAAATGA	0.527000													3	12					0	0	0.004672	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668765	8668765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8668765C>T	ENST00000270328.4	-	4	705	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G147S|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	147					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGATCAGGCCGTGCTGGGTT	0.537000													41	27					0	0	0.003610	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36943146	36943146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:36943146G>A	ENST00000269554.3	-	2	667	c.187C>T	c.(187-189)Cct>Tct	p.P63S	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	63	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCATGACAGGAACAGGAACA	0.463000													115	18					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54952821	54952821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:54952821G>A	ENST00000273286.5	-	3	865	c.703C>T	c.(703-705)Cct>Tct	p.P235S	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.P159S|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	235						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCAGGAGCAGGAAGAGGGCAG	0.607000													4	15					0	0	0.000248	0	0
FAM120C	54954	broad.mit.edu	37	X	54107815	54107815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54107815G>A	ENST00000375180.2	-	14	2974	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F	FAM120C_ENST00000328235.4_Missense_Mutation_p.P836S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	973										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCCCTGGAGGATCTGCTGCC	0.552000													15	42					0	0	0.004990	0	0
CTSG	1511	broad.mit.edu	37	14	25043013	25043013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:25043013C>T	ENST00000216336.2	-	5	634	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	200	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.D200N(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCTCCGGAATCCCCCTGTAGG	0.622000													28	65					0	0	0.001512	0	0
NLRP2	55655	broad.mit.edu	37	19	55494259	55494259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55494259C>T	ENST00000543010.1	+	6	1336	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L	NLRP2_ENST00000537859.1_Missense_Mutation_p.P376L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P398L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P374L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P374L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P395L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P376L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P375L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	398	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCTCGGCCCCCGCGGTGTGC	0.637000													9	50					0	0	0.000978	0	0
TANC1	85461	broad.mit.edu	37	2	160035306	160035306	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:160035306C>T	ENST00000263635.6	+	14	2379	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F	TANC1_ENST00000454300.1_Silent_p.F608F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	714						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGACCTTTTCCAGAGGGGCC	0.552000													19	36					0	0	0.001216	0	0
CACNA1E	777	broad.mit.edu	37	1	181767745	181767745	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:181767745C>T	ENST00000526775.1	+	46	6696	c.6531C>T	c.(6529-6531)tcC>tcT	p.S2177S	CACNA1E_ENST00000360108.3_Silent_p.S2220S|CACNA1E_ENST00000367573.2_Silent_p.S2239S|CACNA1E_ENST00000367567.4_Silent_p.S1803S|CACNA1E_ENST00000357570.5_Silent_p.S2190S|CACNA1E_ENST00000367570.1_Silent_p.S2196S|CACNA1E_ENST00000358338.5_Silent_p.S2128S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2239					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGAAGACTCCCACGCCTCAG	0.637000													5	13					0	0	0.000602	0	0
TMEM9B	56674	broad.mit.edu	37	11	8969979	8969979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:8969979G>A	ENST00000534025.1	-	5	944	c.485C>T	c.(484-486)tCc>tTc	p.S162F	TMEM9B_ENST00000309134.5_Missense_Mutation_p.S88F|TMEM9B_ENST00000525069.1_Missense_Mutation_p.S88F	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	162					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		TCGACTGCGGGAGCGGGCTAG	0.498000													17	33					0	0	0.004990	0	0
LRRC17	10234	broad.mit.edu	37	7	102574369	102574369	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102574369G>A	ENST00000249377.4	+	2	290	c.9G>A	c.(7-9)gtG>gtA	p.V3V	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Silent_p.V3V|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	3					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GGATGCGTGTGGTTACCATTG	0.493000													17	4					0	0	0.004007	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519789	111519789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:111519789C>T	ENST00000261486.5	-	18	1822	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	516						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATACAGCTTCCCACTGAGGC	0.448000													14	16					0	0	0.003163	0	0
MPPED1	758	broad.mit.edu	37	22	43831072	43831072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:43831072C>T	ENST00000417669.1	+	3	787	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	MPPED1_ENST00000542779.1_Missense_Mutation_p.H115Y|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Missense_Mutation_p.H9Y|MPPED1_ENST00000538182.1_Missense_Mutation_p.H148Y|MPPED1_ENST00000443721.1_Missense_Mutation_p.H115Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	115							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGCTGATCCACGCTGGGGA	0.652000													70	18					0	0	0.003610	0	0
RECQL5	9400	broad.mit.edu	37	17	73658888	73658888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73658888G>A	ENST00000420326.2	-	4	601	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	RECQL5_ENST00000423245.2_Missense_Mutation_p.R121C|RECQL5_ENST00000340830.5_Missense_Mutation_p.R148C|RECQL5_ENST00000317905.5_Missense_Mutation_p.R148C|RECQL5_ENST00000584999.1_Missense_Mutation_p.R148C	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	148	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCAGGTGGCGGGACACCAGG	0.567000								Other identified genes with known or suspected DNA repair function					85	193					0	0	0.003610	0	0
DGKH	160851	broad.mit.edu	37	13	42733442	42733442	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:42733442A>T	ENST00000379274.2	+	6	684	c.255A>T	c.(253-255)gcA>gcT	p.A85A	DGKH_ENST00000540693.1_Silent_p.A221A|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000261491.4_Silent_p.A221A|DGKH_ENST00000536612.1_Silent_p.A85A|DGKH_ENST00000337343.4_Silent_p.A221A|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	221	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGTGAGAGCAACAAATAACT	0.403000													4	7					0	0	0.000248	0	0
NCOR2	9612	broad.mit.edu	37	12	124829403	124829403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124829403G>A	ENST00000356219.3	-	33	4630	c.4475C>T	c.(4474-4476)cCa>cTa	p.P1492L	NCOR2_ENST00000405201.1_Missense_Mutation_p.P1485L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1476L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1046L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1475L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1475L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1493					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGCACGGGTGGGAACGTCCG	0.697000													3	3					0	0	0.000248	0	0
OR8B4	283162	broad.mit.edu	37	11	124294684	124294684	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:124294684G>A	ENST00000356130.3	-	1	105	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAATAGAAGGAAAAGAGGGA	0.468000													8	11					0	0	0.004482	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606174	21606174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:21606174C>T	ENST00000281523.2	-	3	686	c.168G>A	c.(166-168)atG>atA	p.M56I	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	56						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAATCGGGTCCATCTGTAATG	0.363000													6	29					0	0	0.001168	0	0
FGD2	221472	broad.mit.edu	37	6	36979536	36979536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:36979536G>A	ENST00000274963.8	+	4	604	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	145	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTTCCCAGAGGATGTGGTCAG	0.582000													54	10					0	0	0.003610	0	0
DCAF16	54876	broad.mit.edu	37	4	17805284	17805284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:17805284G>A	ENST00000382247.1	-	3	1541	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	DCAF16_ENST00000536863.1_Missense_Mutation_p.P161S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	161						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TCAGGTATGGGAGTGGCTCTA	0.463000													27	78					0	0	0.005443	0	0
GSTK1	373156	broad.mit.edu	37	7	142960654	142960654	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142960654C>T	ENST00000479303.1	+	1	106	c.48C>T	c.(46-48)tcC>tcT	p.S16S	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Silent_p.S16S|GSTK1_ENST00000409500.3_Silent_p.S16S|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Silent_p.S16S	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	16	Glutathione binding.					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	ACGTGCTGTCCCCCTACTCCT	0.682000													12	69					0	0	0.003163	0	0
FAM13C	220965	broad.mit.edu	37	10	61029683	61029683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61029683G>A	ENST00000373867.3	-	8	995	c.530C>T	c.(529-531)cCa>cTa	p.P177L	FAM13C_ENST00000442566.3_Missense_Mutation_p.P281L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P281L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P177L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P260L|FAM13C_ENST00000373868.2_Missense_Mutation_p.P260L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P260L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P260L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	260										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTGCTGGGTGGAGATGGGGC	0.428000													11	10					0	0	0.001855	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16875863C>T	ENST00000524140.2	+	10	2688	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_ENST00000549814.1_Missense_Mutation_p.S757F|NWD1_ENST00000339803.6_Missense_Mutation_p.S622F|NWD1_ENST00000523826.1_Missense_Mutation_p.S551F|NWD1_ENST00000379808.3_Missense_Mutation_p.S757F|NWD1_ENST00000552788.1_Missense_Mutation_p.S757F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000													5	39					0	0	0.000602	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815204	89815204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:89815204G>A	ENST00000315948.6	-	3	497	c.353C>T	c.(352-354)aCc>aTc	p.T118I	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Silent_p.D98D	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	118					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AAGTGTTTCGGTCAAGGAACT	0.383000													16	18					0	0	0.004007	0	0
SLC18A1	6570	broad.mit.edu	37	8	20030599	20030599	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:20030599C>T	ENST00000440926.1	-	7	1142	c.672G>A	c.(670-672)gaG>gaA	p.E224E	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000437980.1_Silent_p.E224E|SLC18A1_ENST00000276373.5_Silent_p.E224E|SLC18A1_ENST00000519026.1_Silent_p.E224E|SLC18A1_ENST00000381608.4_Silent_p.E224E|SLC18A1_ENST00000265808.7_Silent_p.E224E	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	224					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTCGTCCTCTCTCATGGTCAT	0.617000													8	0					0	0	0.006214	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045107	55045107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55045107C>T	ENST00000335056.3	+	3	265	c.227C>T	c.(226-228)tCc>tTc	p.S76F																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACTGGCCTTTCCAACAACATC	0.507000													15	13					0	0	0.004007	0	0
MIR134	406924	broad.mit.edu	37	14	101521040	101521040	+	RNA	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:101521040T>C	ENST00000385258.2	+	0	33					NR_029698.1																						GTGTGACTGGTTGACCAGAGG	0.587000													19	16					0	0	0.001216	0	0
PRKD2	25865	broad.mit.edu	37	19	47214236	47214236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:47214236G>A	ENST00000433867.1	-	4	916	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PRKD2_ENST00000600194.1_5'UTR|PRKD2_ENST00000291281.4_Missense_Mutation_p.R147W|PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000595515.1_Missense_Mutation_p.R147W	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	147					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGGCGCCCGATAGGAGTGC	0.647000													3	8					0	0	0.004672	0	0
OR10T2	128360	broad.mit.edu	37	1	158368447	158368447	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158368447C>T	ENST00000334438.1	-	1	809	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACTGATCCTTGTCTGAGG	0.478000													8	28					0	0	0.004482	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600739	22600739	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22600739C>T	ENST00000390456.3	+	0	84																											ATGGCCACATCACTGTCTCTG	0.488000													11	18					0	0	0.000673	0	0
PTPRU	10076	broad.mit.edu	37	1	29639145	29639145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:29639145G>A	ENST00000323874.8	+	23	3282	c.3172G>A	c.(3172-3174)Ggg>Agg	p.G1058R	PTPRU_ENST00000460170.2_Missense_Mutation_p.G1058R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G1049R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1062R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1052R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G1058R			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1062	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATGCCACGGGGCTGCTGGC	0.647000													8	19					0	0	0.003080	0	0
KAT2B	8850	broad.mit.edu	37	3	20168949	20168949	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:20168949C>G	ENST00000263754.4	+	11	2112	c.1657C>G	c.(1657-1659)Cgt>Ggt	p.R553G		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	553	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TAAAGATGGCCGTGTTATTGG	0.368000													15	72					0	0	0.004007	0	0
MKL1	57591	broad.mit.edu	37	22	40813460	40813460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40813460G>A	ENST00000396617.3	-	13	2692	c.2102C>T	c.(2101-2103)tCt>tTt	p.S701F	MKL1_ENST00000355630.3_Missense_Mutation_p.S701F|MKL1_ENST00000407029.1_Missense_Mutation_p.S701F|MKL1_ENST00000402042.1_Missense_Mutation_p.S651F			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	701	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CATCTGGGCAGAGGGGGCAGG	0.652000			T	RBM15	acute megakaryocytic leukemia								4	20					0	0	0.000248	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632249	156632249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:156632249G>A	ENST00000296518.7	+	6	1141	c.932G>A	c.(931-933)aGg>aAg	p.R311K	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R53K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R311K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	311					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATGAACAGGAGAGACTTT	0.383000													6	26					0	0	0.001168	0	0
CECR2	27443	broad.mit.edu	37	22	18028180	18028180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:18028180G>A	ENST00000262608.8	+	16	3140	c.3140G>A	c.(3139-3141)gGg>gAg	p.G1047E	CECR2_ENST00000400585.2_Missense_Mutation_p.G904E|CECR2_ENST00000400573.4_Missense_Mutation_p.G1046E	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1088					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGATCGGAGGGGAAGGGCCTT	0.617000													23	11					0	0	0.002780	0	0
UPRT	139596	broad.mit.edu	37	X	74494158	74494158	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:74494158C>T	ENST00000373379.1	+	1	234	c.69C>T	c.(67-69)acC>acT	p.T23T	UPRT_ENST00000373383.4_Silent_p.T23T|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	23					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTGCCTCAACCCCAAGTCCCG	0.627000													4	16					0	0	0.000248	0	0
C8orf82	414919	broad.mit.edu	37	8	145753369	145753369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:145753369G>A	ENST00000313465.5	-	2	419	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	C8orf82_ENST00000524821.1_Intron	NM_001001795.1	NP_001001795.1	Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	0										endometrium(1)|urinary_tract(1)	2						CTGCCCGGAAGGGAGAAAGAA	0.602000													18	47					0	0	0.007413	0	0
POTEE	445582	broad.mit.edu	37	2	132021764	132021764	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:132021764C>T	ENST00000356920.5	+	15	2830	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	912	Actin-like.						ATP binding										TGCGTGACATCAAAGAGAAGC	0.602000													24	112					0	0	0.002836	0	0
NRG2	9542	broad.mit.edu	37	5	139231229	139231229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:139231229C>T	ENST00000541337.1	-	7	1763	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	NRG2_ENST00000340391.3_Missense_Mutation_p.D375N|NRG2_ENST00000361474.1_Missense_Mutation_p.D578N|NRG2_ENST00000545385.1_Missense_Mutation_p.D580N|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.D580N|NRG2_ENST00000289409.4_Missense_Mutation_p.D572N|NRG2_ENST00000289422.7_Missense_Mutation_p.D586N	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	578					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACGGAATCGTGATAGGGT	0.657000													42	32					0	0	0.003610	0	0
OTOGL	283310	broad.mit.edu	37	12	80735867	80735867	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:80735867G>A	ENST00000458043.2	+	43	5169	c.5163G>A	c.(5161-5163)agG>agA	p.R1721R	OTOGL_ENST00000547103.1_Silent_p.R1709R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GACCTGTTAGGAATTGTACTG	0.313000													3	4					0	0	0.004672	0	0
OBSCN	84033	broad.mit.edu	37	1	228547848	228547848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228547848G>A	ENST00000284548.11	+	81	19329	c.19255G>A	c.(19255-19257)Gag>Aag	p.E6419K	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.E3538K			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCAGCCTGGAGGAGGAGGG	0.657000													7	10					0	0	0.001984	0	0
ATG7	10533	broad.mit.edu	37	3	11348436	11348436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:11348436C>T	ENST00000354449.3	+	4	260	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	ATG7_ENST00000446450.2_Missense_Mutation_p.R79C|ATG7_ENST00000354956.5_Missense_Mutation_p.R79C	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	79					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACCCCAGCCCGTTGCTGCCC	0.512000													85	60					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132161740	132161740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:132161740C>T	ENST00000511190.1	-	6	978	c.509G>A	c.(508-510)gGa>gAa	p.G170E	USP26_ENST00000406273.1_Missense_Mutation_p.G170E|USP26_ENST00000370832.1_Missense_Mutation_p.G170E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	170					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGATAACTCTCCGCAAGTAAG	0.378000													10	24					0	0	0.006214	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:40541451G>A	ENST00000434248.1	-	5	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H291Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000													50	34					0	0	0.003610	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835935	12835935	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12835935T>C	ENST00000357726.4	+	2	564	c.537T>C	c.(535-537)tgT>tgC	p.C179C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	179										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACGTGTGTTGCAAGGAGC	0.507000													43	31					0	0	0.002222	0	0
GSDMA	284110	broad.mit.edu	37	17	38121985	38121985	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38121985A>G	ENST00000301659.4	+	2	163	c.45A>G	c.(43-45)ctA>ctG	p.L15L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	15					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCAGACAGCTAAACCCTCGAG	0.572000													15	2					0	0	0.004990	0	0
C6	729	broad.mit.edu	37	5	41176678	41176678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41176678C>T	ENST00000263413.3	-	8	1331	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	C6_ENST00000337836.5_Missense_Mutation_p.R356Q|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	356	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCGAATATTCGGCTGTACAA	0.423000													12	23					0	0	0.002450	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320735	78320735	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:78320735T>G	ENST00000466548.1	+	5	963	c.937T>G	c.(937-939)Tgt>Ggt	p.C313G	SLAIN1_ENST00000488699.1_Missense_Mutation_p.C171G|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Missense_Mutation_p.C94G|SLAIN1_ENST00000267219.8_Missense_Mutation_p.C94G|SLAIN1_ENST00000351546.3_Missense_Mutation_p.C50G|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Missense_Mutation_p.C50G	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	313										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AAAAGGGACATGTAGTGATCA	0.408000													11	13					0	0	0.000978	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265061	36265061	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:36265061C>T	ENST00000296604.3	-	6	965	c.480_splice	c.e6+1	p.K160_splice	RANBP3L_ENST00000515759.1_Splice_Site_p.K160_splice|RANBP3L_ENST00000502994.1_Splice_Site_p.K185_splice	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	160					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GCTTTCTCACCTTATTATTTG	0.418000													24	72					0	0	0.003330	0	0
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:34263626C>T	ENST00000262622.3	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000													29	31					0	0	0.001786	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28331720C>T	ENST00000341901.4	+	4	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000													21	36					0	0	0.003330	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677313	37677313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:37677313G>A	ENST00000532828.2	-	5	1377	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H321Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.418000													18	47					0	0	0.006122	0	0
FCHO2	115548	broad.mit.edu	37	5	72348266	72348266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:72348266C>T	ENST00000430046.2	+	13	1221	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	FCHO2_ENST00000512348.1_Missense_Mutation_p.H336Y|FCHO2_ENST00000341845.6_Missense_Mutation_p.H369Y	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	369										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TAACTCACATCACACAATGGC	0.353000													3	2					0	0	0.004672	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411946	20411946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:20411946C>T	ENST00000382907.4	-	5	738	c.602G>A	c.(601-603)aGa>aAa	p.R201K	ZMYM5_ENST00000382905.4_Silent_p.K296K|ZMYM5_ENST00000337963.4_Silent_p.K296K	NM_001039649.2	NP_001034738.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	0						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CATTAGCCTTCTTTGTAGATG	0.303000													11	29					0	0	0.001855	0	0
NLGN3	54413	broad.mit.edu	37	X	70375108	70375108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70375108G>A	ENST00000374051.3	+	4	884	c.562G>A	c.(562-564)Gga>Aga	p.G188R	NLGN3_ENST00000536169.1_Missense_Mutation_p.G168R|NLGN3_ENST00000358741.3_Missense_Mutation_p.G208R|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	208					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTACATCCACGGAGGCTCTTA	0.562000													29	23					0	0	0.002096	0	0
DMD	1756	broad.mit.edu	37	X	32472947	32472947	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:32472947G>A	ENST00000357033.4	-	26	3641	c.3435C>T	c.(3433-3435)gtC>gtT	p.V1145V	DMD_ENST00000378677.2_Silent_p.V1141V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1145					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTGGCATAGACCTTCCACA	0.363000													4	15					0	0	0.000602	0	0
FAM83E	54854	broad.mit.edu	37	19	49107059	49107059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:49107059G>A	ENST00000263266.3	-	4	1057	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	290										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTGGGAGCGGGCAGGAGGCC	0.711000													26	16					0	0	0.004656	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818946	159818946	+	RNA	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:159818946A>G	ENST00000497452.1	-	0	517																											AGGCAGAAAAAGACCTCCAGT	0.493000													4	163					0	0	0.000602	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175286	207175286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207175286C>T	ENST00000374423.3	+	5	6420	c.6034C>T	c.(6034-6036)Ctt>Ttt	p.L2012F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2012							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTCTGTGTTCTTTCTTCTTT	0.358000													4	10					0	0	0.000248	0	0
CSMD1	64478	broad.mit.edu	37	8	3432491	3432491	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:3432491G>A	ENST00000520002.1	-	11	1878	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	CSMD1_ENST00000539096.1_Silent_p.V440V|CSMD1_ENST00000537824.1_Silent_p.V440V|CSMD1_ENST00000602723.1_Silent_p.V441V|CSMD1_ENST00000400186.3_Silent_p.V441V|CSMD1_ENST00000602557.1_Silent_p.V441V|CSMD1_ENST00000542608.1_Silent_p.V440V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	441	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGTGGTGATGACCCACACAC	0.527000													13	78					0	0	0.003163	0	0
CDCA3	83461	broad.mit.edu	37	12	6958788	6958788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:6958788G>A	ENST00000422785.3	-	4	589	c.485C>T	c.(484-486)cCt>cTt	p.P162L	CDCA3_ENST00000540683.1_Missense_Mutation_p.P162L|CDCA3_ENST00000229265.6_Missense_Mutation_p.P137L|CDCA3_ENST00000535406.1_Missense_Mutation_p.P162L|CDCA3_ENST00000538862.2_Missense_Mutation_p.P162L			Q99618	CDCA3_HUMAN	cell division cycle associated 3	162					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GCTGGCCACAGGGGTTTCTGT	0.522000													101	17					0	0	0.003610	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912841	94912841	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:94912841C>T	ENST00000334708.3	-	3	808	c.744G>A	c.(742-744)aaG>aaA	p.K248K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	248					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTGCATTTCCTTTTGGTGCA	0.527000													40	84					0	0	0.001951	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316031	30316031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:30316031C>T	ENST00000375377.1	-	3	3147	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1016										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGGACCGCTTCACTTGGTTTC	0.567000													54	42					0	0	0.003610	0	0
KLK5	25818	broad.mit.edu	37	19	51447000	51447000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51447000C>T	ENST00000336334.3	-	6	1121	c.769G>A	c.(769-771)Gga>Aga	p.G257R	KLK5_ENST00000593428.1_Missense_Mutation_p.G257R|KLK5_ENST00000391809.2_Missense_Mutation_p.G257R	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	257	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GACACGAGTCCCTGCAGGGAG	0.592000													10	40					0	0	0.001368	0	0
DNA2	1763	broad.mit.edu	37	10	70182600	70182600	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:70182600G>A	ENST00000399180.2	-	15	2513	c.2514C>T	c.(2512-2514)tcC>tcT	p.S838S	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Silent_p.S752S			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	752					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AAATTTTACGGGAAAATATTG	0.333000													11	20					0	0	0.001368	0	0
ABCB7	22	broad.mit.edu	37	X	74332752	74332752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:74332752C>T	ENST00000253577.3	-	3	329	c.305G>A	c.(304-306)gGa>gAa	p.G102E	ABCB7_ENST00000373394.3_Missense_Mutation_p.G101E|ABCB7_ENST00000339447.4_Missense_Mutation_p.G101E	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	101					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGTCCTCCTCCTGCATGACC	0.423000													33	57					0	0	0.003271	0	0
BCKDHA	593	broad.mit.edu	37	19	41928178	41928178	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:41928178C>T	ENST00000269980.2	+	6	1124	c.756C>T	c.(754-756)ttC>ttT	p.F252F	BCKDHA_ENST00000595085.1_Silent_p.F286F|BCKDHA_ENST00000457836.2_Silent_p.F230F|CTC-435M10.3_ENST00000540732.1_Silent_p.F286F|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	252					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCTTCAACTTCGCTGCCACAC	0.617000													39	38					0	0	0.002522	0	0
TPO	7173	broad.mit.edu	37	2	1440077	1440077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1440077C>T	ENST00000345913.4	+	5	494	c.403C>T	c.(403-405)Cct>Tct	p.P135S	TPO_ENST00000382269.3_Missense_Mutation_p.P135S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.P135S|TPO_ENST00000539820.1_Missense_Mutation_p.P135S|TPO_ENST00000382201.3_Missense_Mutation_p.P135S|TPO_ENST00000346956.3_Missense_Mutation_p.P135S|TPO_ENST00000337415.3_Missense_Mutation_p.P135S|TPO_ENST00000329066.4_Missense_Mutation_p.P135S|TPO_ENST00000349624.3_Missense_Mutation_p.P135S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	135					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGATGTCTCCCTTACATGCT	0.433000													23	38					0	0	0.002299	0	0
ZNF662	389114	broad.mit.edu	37	3	42950362	42950362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42950362G>A	ENST00000541208.1	+	3	481	c.112G>A	c.(112-114)Gga>Aga	p.G38R	ZNF662_ENST00000440367.2_Missense_Mutation_p.G38R|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.G38R|ZNF662_ENST00000328199.6_Missense_Mutation_p.G98R|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGTTCCTCGGGGAGCTCTGGA	0.532000													13	63					0	0	0.001855	0	0
ACPL2	92370	broad.mit.edu	37	3	141011793	141011793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:141011793C>T	ENST00000508812.1	+	5	3069	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	ACPL2_ENST00000393007.1_Missense_Mutation_p.P381S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Missense_Mutation_p.P380S|ACPL2_ENST00000286353.4_Missense_Mutation_p.P397S|ACPL2_ENST00000393010.2_Missense_Mutation_p.P397S|ACPL2_ENST00000502783.1_Missense_Mutation_p.P359S			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	397						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCAGGTTCCCAAGGTTTGC	0.507000													15	107					0	0	0.004990	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:58519433C>T	ENST00000358293.3	+	5	850	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Silent_p.F145F	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	145																	ATCCTAATTTCCTTCCATCCC	0.483000													43	59					0	0	0.003610	0	0
ABCG8	64241	broad.mit.edu	37	2	44071673	44071673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:44071673G>A	ENST00000272286.2	+	2	181	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	31					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTCTCCTCTGAAAGTGACAA	0.542000													105	91					0	0	0.003610	0	0
VSIG1	340547	broad.mit.edu	37	X	107316000	107316000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:107316000C>T	ENST00000415430.3	+	5	775	c.614C>T	c.(613-615)tCc>tTc	p.S205F	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.S169F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	169	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGAACACCTTCCCCTGTGTAC	0.483000													20	64					0	0	0.001882	0	0
ZNF597	146434	broad.mit.edu	37	16	3487247	3487247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:3487247C>T	ENST00000301744.4	-	4	687	c.452G>A	c.(451-453)gGa>gAa	p.G151E	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATTTTTGGCTCCTTCCCAGGG	0.378000													40	88					0	0	0.002222	0	0
MCTP2	55784	broad.mit.edu	37	15	94945194	94945194	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:94945194C>T	ENST00000357742.4	+	16	2031	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	MCTP2_ENST00000557742.1_Silent_p.F265F|MCTP2_ENST00000451018.3_Silent_p.F677F|MCTP2_ENST00000331706.4_Silent_p.F265F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	677					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATGCAGTTCCTTAAAAGCT	0.353000													27	23					0	0	0.006320	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163581	32163581	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:32163581C>T	ENST00000564145.1	-	0	65																											AGGCGACCATCGATGCCTCCA	0.587000													5	19					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086102	92086102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:92086102C>T	ENST00000298047.6	+	1	841	c.824C>T	c.(823-825)tCg>tTg	p.S275L	FAT3_ENST00000541502.1_Missense_Mutation_p.S275L|FAT3_ENST00000525166.1_Missense_Mutation_p.S125L|FAT3_ENST00000409404.2_Missense_Mutation_p.S275L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	275	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCCTTTCTCGTTGGAAAAA	0.448000										TCGA Ovarian(4;0.039)			70	126					0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31593227	31593227	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:31593227C>T	ENST00000379416.3	-	18	2022	c.1974G>A	c.(1972-1974)aaG>aaA	p.K658K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	658					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTACCTTATCCTTCGCAAAGA	0.348000													12	26					0	0	0.003163	0	0
KATNAL2	83473	broad.mit.edu	37	18	44579378	44579378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:44579378C>T	ENST00000245121.5	+	2	228	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	KATNAL2_ENST00000356157.7_Nonsense_Mutation_p.Q84*|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	84						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGTAAAATTTCAGAAATACCC	0.333000													39	14					0	0	0.001951	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781843	159781843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:159781843C>T	ENST00000393975.3	-	2	314	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	59	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCCATTCGTCCCATCAT	0.662000													9	7					0	0	0.006214	0	0
ANO4	121601	broad.mit.edu	37	12	101477506	101477506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101477506G>A	ENST00000392979.3	+	15	1702	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Missense_Mutation_p.M482I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	482						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGAGCGGATGAATCCAATTT	0.383000										HNSCC(74;0.22)			39	4					0	0	0.006230	0	0
KIAA1210	57481	broad.mit.edu	37	X	118219348	118219348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:118219348C>T	ENST00000402510.2	-	12	4845	c.4846G>A	c.(4846-4848)Gag>Aag	p.E1616K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1616			E -> G (in dbSNP:rs2305570).							breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCCTACCTCATATTTAGGC	0.458000													59	58					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	22089541	22089541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:22089541G>A	ENST00000261200.4	-	1	67	c.68C>T	c.(67-69)tCc>tTc	p.S23F	ABCC9_ENST00000538350.1_Missense_Mutation_p.S23F|ABCC9_ENST00000326684.4_Missense_Mutation_p.S23F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S23F|ABCC9_ENST00000261201.4_Missense_Mutation_p.S23F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	23					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CACAAAGCAGGAATTTTGTAG	0.338000													30	4					0	0	0.001512	0	0
COL5A1	1289	broad.mit.edu	37	9	137708893	137708893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:137708893G>A	ENST00000371817.3	+	53	4558	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1382	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACTGGTGAACCAGGTCC	0.547000													38	12					0	0	0.002522	0	0
TTI1	9675	broad.mit.edu	37	20	36640472	36640472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:36640472C>T	ENST00000373448.2	-	3	1985	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	TTI1_ENST00000449821.1_Missense_Mutation_p.E583K|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.E583K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	583							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATCAGCTCCTCTCCCATTTCC	0.458000													98	134					0	0	0.003610	0	0
TGM5	9333	broad.mit.edu	37	15	43531464	43531464	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43531464C>T	ENST00000220420.5	-	8	1009	c.1001_splice	c.e8-1	p.W334_splice	TGM5_ENST00000349114.4_Splice_Site_p.W252_splice	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	334					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATGGAAGTTCCTGTGTCAAA	0.532000													16	57					0	0	0.004990	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960250	117960250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117960250C>T	ENST00000310164.2	+	4	1550	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATCCGCTGTTCGTATTGTGGT	0.502000													22	44					0	0	0.001882	0	0
IPO5	3843	broad.mit.edu	37	13	98671844	98671844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:98671844C>T	ENST00000261574.5	+	27	3080	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	IPO5_ENST00000539640.1_Missense_Mutation_p.P824L|IPO5_ENST00000490680.1_Missense_Mutation_p.P949L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	949					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGCACTTCCCCTGCTGGTA	0.353000													9	2					0	0	0.004482	0	0
INPPL1	3636	broad.mit.edu	37	11	71946938	71946938	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:71946938C>T	ENST00000298229.2	+	25	2991	c.2787C>T	c.(2785-2787)tcC>tcT	p.S929S	INPPL1_ENST00000538751.1_Silent_p.S687S|INPPL1_ENST00000541756.1_Silent_p.S687S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	929					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCCGCTCTCCAGGTTATTTG	0.652000													24	34					0	0	0.002780	0	0
ABCB5	340273	broad.mit.edu	37	7	20768058	20768058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:20768058G>A	ENST00000404938.2	+	23	3499	c.2847G>A	c.(2845-2847)atG>atA	p.M949I	ABCB5_ENST00000258738.6_Missense_Mutation_p.M504I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	504					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTGGACGAATGACCCCAGAGG	0.468000													32	18					0	0	0.001786	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450003	17450003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17450003C>T	ENST00000324894.8	+	6	804	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	GTPBP3_ENST00000361619.5_Missense_Mutation_p.L268F|GTPBP3_ENST00000600625.1_Missense_Mutation_p.L246F|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L278F	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	246					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGCAGAGGCTCCGCTCAGG	0.657000													5	51					0	0	0.000602	0	0
MMP17	4326	broad.mit.edu	37	12	132334600	132334600	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:132334600C>T	ENST00000360564.1	+	9	1560	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	MMP17_ENST00000535004.1_Silent_p.S26S|MMP17_ENST00000535291.1_Silent_p.S402S	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	486	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TGCGCTGGTCCGACGGTGAGT	0.677000													8	4					0	0	0.003080	0	0
CACNA1F	778	broad.mit.edu	37	X	49079547	49079547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:49079547C>T	ENST00000376265.2	-	15	2020	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Missense_Mutation_p.M642I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.M588I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	653					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGATGGATTTCATTGAATTGA	0.522000													4	5					0	0	0.001168	0	0
CLASRP	11129	broad.mit.edu	37	19	45559751	45559751	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45559751G>T	ENST00000544944.2	+	5	1115	c.423G>T	c.(421-423)ttG>ttT	p.L141F	CLASRP_ENST00000391953.4_Missense_Mutation_p.L79F|CLASRP_ENST00000221455.3_Missense_Mutation_p.L141F			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	141					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TTGATGAGTTGTACGGAGGCC	0.582000													55	212					1.20869e-33	1.55411e-33	0.003610	1	0
NTSR1	4923	broad.mit.edu	37	20	61340785	61340785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61340785G>A	ENST00000370501.3	+	1	597	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	76						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCTCTTCGTGGTGGGCACGGT	0.667000													24	40					0	0	0.002299	0	0
GRIK4	2900	broad.mit.edu	37	11	120833291	120833291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120833291G>A	ENST00000527524.2	+	18	2454	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E723K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	723					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCCTCCTGGAATCCACCAT	0.542000													15	17					0	0	0.003163	0	0
SPOCK3	50859	broad.mit.edu	37	4	168155240	168155240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:168155240C>T	ENST00000357154.3	-	2	222	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SPOCK3_ENST00000541637.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000510741.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000511269.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.A29T|SPOCK3_ENST00000512648.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.A29T|SPOCK3_ENST00000504953.1_Missense_Mutation_p.A29T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	29					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CGCCCCCCGGCTGCAGCCACC	0.577000													21	22					0	0	0.001882	0	0
MYRF	745	broad.mit.edu	37	11	61539185	61539185	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61539185G>A	ENST00000278836.5	+	6	1050	c.954G>A	c.(952-954)caG>caA	p.Q318Q	MYRF_ENST00000265460.5_Silent_p.Q309Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCCGTGTCCAGACACCGCCTT	0.692000													28	48					0	0	0.006320	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402415	47402415	+	Missense_Mutation	SNP	C	C	T	rs148717576		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47402415C>T	ENST00000310638.4	-	4	462	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CYP4A11_ENST00000371905.1_Missense_Mutation_p.R144Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R144Q|CYP4A11_ENST00000457840.2_Missense_Mutation_p.R40Q|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGTCAGCATCCGTCGATGCTG	0.527000													10	15					0	0	0.000978	0	0
CARD11	84433	broad.mit.edu	37	7	2976739	2976739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:2976739C>T	ENST00000396946.4	-	9	1676	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	425					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCAGGCCTCCCGCCGCACC	0.607000			Mis		DLBCL								9	35					0	0	0.000978	0	0
NCOR2	9612	broad.mit.edu	37	12	124979740	124979740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124979740G>A	ENST00000356219.3	-	2	213	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	NCOR2_ENST00000405201.1_Missense_Mutation_p.P20S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P20S|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.P20S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P20S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	20					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTGGGGCGGGTAGCGGGGC	0.657000													11	18					0	0	0.004007	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3644155	3644155	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3644155G>A	ENST00000335312.3	-	12	1528	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	PIP5K1C_ENST00000539785.1_Silent_p.I480I|PIP5K1C_ENST00000537021.1_Silent_p.I480I|PIP5K1C_ENST00000589578.1_Silent_p.I480I	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	480					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCTCGCTAGGGATCTGGCTGG	0.697000													12	60					0	0	0.001368	0	0
AR	367	broad.mit.edu	37	X	66931342	66931342	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:66931342G>T	ENST00000374690.3	+	4	2508	c.1984G>T	c.(1984-1986)Gtg>Ttg	p.V662L	AR_ENST00000396043.2_Missense_Mutation_p.V130L|AR_ENST00000396044.3_Missense_Mutation_p.V662L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	661	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GAAGCTGACAGTGTCACACAT	0.522000									Androgen Insensitivity Syndrome				7	6					2.0095e-06	2.56916e-06	0.001984	1	0
NIPAL2	79815	broad.mit.edu	37	8	99217347	99217347	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:99217347G>A	ENST00000341166.3	-	7	1038	c.783C>T	c.(781-783)ttC>ttT	p.F261F	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.F261F	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	261						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ACTTGACTTGGAAAACACAAG	0.363000													7	37					0	0	0.001984	0	0
COL9A1	1297	broad.mit.edu	37	6	71004057	71004057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:71004057G>A	ENST00000357250.6	-	5	667	c.509C>T	c.(508-510)tCg>tTg	p.S170L	COL9A1_ENST00000370496.3_Missense_Mutation_p.S170L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGACAAATTCGAAAAGGCTGC	0.428000													64	8					0	0	0.003610	0	0
CHRD	8646	broad.mit.edu	37	3	184100658	184100658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:184100658C>T	ENST00000204604.1	+	9	1243	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.P333S|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P333S	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	333	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACCCAGGTTCCCTTGAGGCT	0.587000													20	10					0	0	0.001216	0	0
NEBL	10529	broad.mit.edu	37	10	21112212	21112212	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:21112212C>T	ENST00000377122.4	-	19	2283	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	629					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGTTTAATCTCTTCTTTGT	0.289000													8	6					0	0	0.006214	0	0
KDR	3791	broad.mit.edu	37	4	55964319	55964319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:55964319C>T	ENST00000263923.4	-	17	2789	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	832					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAGCCGGTCTCTGGGGAAT	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	20					0	0	0.000602	0	0
TRPM1	4308	broad.mit.edu	37	15	31323279	31323279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:31323279G>A	ENST00000542188.1	-	22	3398	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.P1012S|TRPM1_ENST00000397795.2_Missense_Mutation_p.P990S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	990					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTCCTCTGGATGCAGAATG	0.488000													13	70					0	0	0.002450	0	0
ZNF681	148213	broad.mit.edu	37	19	23938330	23938330	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23938330C>T	ENST00000402377.3	-	2	168	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTCTATGGCCACATCCCTAA	0.418000													9	45					0	0	0.006214	0	0
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179702336C>T	ENST00000420890.2	-	23	3727	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E629K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	629							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATATTCTTCCCCTGAGAGC	0.567000													20	37					0	0	0.001216	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702966	27702966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27702966C>T	ENST00000438700.3	-	1	331	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	72					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGTGCATCGTCCCCCTCTGGC	0.716000													28	15					0	0	0.006320	0	0
STAB1	23166	broad.mit.edu	37	3	52551961	52551961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52551961C>T	ENST00000321725.6	+	45	4779	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1568	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGACATGTACCTGCGACACA	0.597000													16	50					0	0	0.006122	0	0
TSKS	60385	broad.mit.edu	37	19	50251672	50251672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50251672C>T	ENST00000246801.3	-	3	536	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	152							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTGGTCTTTTCCTTCAAGCTG	0.562000													17	67					0	0	0.007413	0	0
ACOXL	55289	broad.mit.edu	37	2	111666453	111666453	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:111666453C>T	ENST00000389811.4	+	11	1100	c.876C>T	c.(874-876)gcC>gcT	p.A292A	ACOXL_ENST00000439055.1_Silent_p.A292A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	292					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCCACCTGGCCACAGCCTTGG	0.547000													17	42					0	0	0.004007	0	0
OR7D2	162998	broad.mit.edu	37	19	9296778	9296778	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9296778T>A	ENST00000344248.2	+	1	500	c.321T>A	c.(319-321)ttT>ttA	p.F107L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	107					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CCATGTTTTTTCCTATTCTGG	0.512000													104	51					0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	97770877	97770877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:97770877G>A	ENST00000370192.3	-	18	2337	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	746					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGCCATCAGATTTTAATCC	0.478000													4	21					0	0	0.000248	0	0
GPR139	124274	broad.mit.edu	37	16	20043083	20043083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20043083C>T	ENST00000570682.1	-	2	1336	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	346						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATAGGTTTTCCATTTTTGTCA	0.458000													31	86					0	0	0.001512	0	0
GRM7	2917	broad.mit.edu	37	3	7620651	7620651	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:7620651G>A	ENST00000486284.1	+	8	2332	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.Q686Q|GRM7_ENST00000403881.1_Silent_p.Q686Q|GRM7_ENST00000357716.4_Silent_p.Q686Q|GRM7_ENST00000389336.4_Silent_p.Q686Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	686					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATTTGAGCAGGGCAAGAAAT	0.443000													22	16					0	0	0.001523	0	0
TFR2	7036	broad.mit.edu	37	7	100238391	100238391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100238391G>A	ENST00000462107.1	-	4	678	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	TFR2_ENST00000431692.1_Missense_Mutation_p.H131Y|TFR2_ENST00000223051.3_Missense_Mutation_p.H131Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	131					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGCCCTGGTGGAAATCCAGG	0.627000													6	35					0	0	0.001168	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24324357G>A	ENST00000175238.6	+	6	518	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ADAM7_ENST00000380789.1_Silent_p.V145V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Silent_p.V145V|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	145					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGAACCAGTGAAATACTCAG	0.368000													15	58					0	0	0.004007	0	0
ZNF462	58499	broad.mit.edu	37	9	109689948	109689948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:109689948C>T	ENST00000277225.5	+	3	4044	c.3755C>T	c.(3754-3756)cCc>cTc	p.P1252L	ZNF462_ENST00000441147.2_Missense_Mutation_p.P97L|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1252L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1252					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTGTCTCCCCCTCTAATCTG	0.527000													106	67					0	0	0.003610	0	0
TNS4	84951	broad.mit.edu	37	17	38645137	38645137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38645137G>A	ENST00000254051.6	-	3	682	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	175	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGCCGAAGGGCGGGGTGAC	0.612000													98	12					0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123166728	123166728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123166728G>A	ENST00000462833.1	-	1	1877	c.665C>T	c.(664-666)cCg>cTg	p.P222L		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	222					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTTGTCCGACGGGAACTTCTT	0.672000													4	31					0	0	0.000602	0	0
ESRRG	2104	broad.mit.edu	37	1	216850620	216850620	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:216850620G>A	ENST00000391890.3	-	4	718	c.201C>T	c.(199-201)atC>atT	p.I67I	ESRRG_ENST00000493603.1_Silent_p.I67I|ESRRG_ENST00000463665.1_Silent_p.I67I|ESRRG_ENST00000360012.3_Silent_p.I67I|ESRRG_ENST00000361525.3_Silent_p.I67I|ESRRG_ENST00000361395.2_Silent_p.I67I|ESRRG_ENST00000366938.2_Silent_p.I67I|ESRRG_ENST00000487276.1_Silent_p.I67I|ESRRG_ENST00000366940.2_Silent_p.I67I|ESRRG_ENST00000359162.2_Silent_p.I67I|ESRRG_ENST00000493748.1_Silent_p.I67I|ESRRG_ENST00000366937.1_Silent_p.I95I|ESRRG_ENST00000408911.3_Silent_p.I90I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	90					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACCTCCCAGGATAGGAGCAG	0.537000													39	25					0	0	0.005524	0	0
ATP11A	23250	broad.mit.edu	37	13	113485772	113485772	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:113485772C>T	ENST00000487903.1	+	13	1393	c.1305C>T	c.(1303-1305)gtC>gtT	p.V435V	ATP11A_ENST00000283558.8_Silent_p.V435V|ATP11A_ENST00000375645.3_Silent_p.V435V|ATP11A_ENST00000375630.2_Silent_p.V435V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	435					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGGCCATGTCTACGTGCCCC	0.587000													15	4					0	0	0.003163	0	0
C10orf2	56652	broad.mit.edu	37	10	102753064	102753064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:102753064C>T	ENST00000311916.2	+	5	2037	c.1852C>T	c.(1852-1854)Ccg>Tcg	p.P618S	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	618	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCTTCCCGCTTGAGTT	0.517000													46	60					0	0	0.003214	0	0
PER1	5187	broad.mit.edu	37	17	8051349	8051349	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:8051349C>T	ENST00000317276.4	-	10	1437	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	PER1_ENST00000581082.1_Silent_p.E380E|PER1_ENST00000354903.5_Silent_p.E384E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	400	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGGTCGGTCCTCAGGATGCA	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					17	3					0	0	0.001216	0	0
SEMG2	6407	broad.mit.edu	37	20	43850423	43850423	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43850423A>T	ENST00000372769.3	+	2	240	c.150A>T	c.(148-150)ggA>ggT	p.G50G		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	50					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACTATTTTGGACAAAAAGACC	0.398000													38	49					0	0	0.006230	0	0
KALRN	8997	broad.mit.edu	37	3	124210176	124210176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124210176G>A	ENST00000360013.3	+	31	4715	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K	KALRN_ENST00000460856.1_Missense_Mutation_p.E1521K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1530K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1530	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGACCTCAGAGCTGGGTGT	0.567000													6	46					0	0	0.001168	0	0
BNC1	646	broad.mit.edu	37	15	83933219	83933219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:83933219C>T	ENST00000345382.2	-	4	869	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E255K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	262					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATATATTGTTCGGGCAATGAC	0.498000													10	50					0	0	0.000673	0	0
MARCH7	64844	broad.mit.edu	37	2	160599677	160599677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:160599677C>T	ENST00000259050.3	+	3	381	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	MARCH7_ENST00000409175.1_Missense_Mutation_p.H87Y|MARCH7_ENST00000539065.1_Missense_Mutation_p.H87Y|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.H49Y	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	87	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GCAACGGGATCATGATTCAAA	0.418000													25	47					0	0	0.002780	0	0
APOBR	55911	broad.mit.edu	37	16	28509295	28509295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28509295G>A	ENST00000564831.1	+	2	2966	c.2933G>A	c.(2932-2934)gGt>gAt	p.G978D	APOBR_ENST00000328423.5_Missense_Mutation_p.G969D|APOBR_ENST00000431282.1_Missense_Mutation_p.G969D	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	969					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAGAGGAGGTGCTGCCAAC	0.677000													30	38					0	0	0.006230	0	0
RERGL	79785	broad.mit.edu	37	12	18234201	18234201	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:18234201T>A	ENST00000229002.2	-	6	748	c.542A>T	c.(541-543)aAg>aTg	p.K181M	RERGL_ENST00000538724.1_Missense_Mutation_p.K180M	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	181	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGGACGTCTCTTTTCTTTGAG	0.383000													11	14					0	0	0.000673	0	0
PDE6A	5145	broad.mit.edu	37	5	149278955	149278955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:149278955C>T	ENST00000255266.5	-	9	1365	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	416	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCGTCTCATCCATTTCATCA	0.468000													30	26					0	0	0.001786	0	0
PXDN	7837	broad.mit.edu	37	2	1651961	1651961	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1651961G>A	ENST00000252804.4	-	17	3641	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1197					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTTCTCCCGGATCTCAGGGT	0.517000													64	138					0	0	0.003610	0	0
CDH7	1005	broad.mit.edu	37	18	63547653	63547653	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:63547653C>T	ENST00000397968.2	+	12	2307	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	CDH7_ENST00000323011.3_Silent_p.I627I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	627					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCCTCCTTATCGTCACTATGA	0.443000													11	6					0	0	0.000978	0	0
CYBB	1536	broad.mit.edu	37	X	37664343	37664343	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:37664343G>A	ENST00000378588.4	+	10	1303	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	CYBB_ENST00000536160.1_Silent_p.G145G|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Silent_p.G380G	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	412					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CAGGGATTGGGGTCACACCCT	0.483000													4	8					0	0	0.001168	0	0
SPTB	6710	broad.mit.edu	37	14	65252598	65252598	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:65252598C>T	ENST00000389722.3	-	16	3686	c.3633G>A	c.(3631-3633)gaG>gaA	p.E1211E	SPTB_ENST00000556626.1_Silent_p.E1211E|SPTB_ENST00000389720.3_Silent_p.E1211E|SPTB_ENST00000542895.1_Silent_p.E1211E|SPTB_ENST00000389721.5_Silent_p.E1211E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1211					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCAAGAAATCCTCAAACTTCC	0.512000													83	163					0	0	0.003610	0	0
HPN	3249	broad.mit.edu	37	19	35551548	35551548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:35551548C>T	ENST00000262626.2	+	9	1463	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HPN_ENST00000392226.1_Missense_Mutation_p.S213F|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.S55F	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	213	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGGGTCCTGTCCCGATGGCGA	0.677000													9	64					0	0	0.004482	0	0
SPON1	10418	broad.mit.edu	37	11	14278196	14278196	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:14278196G>A	ENST00000310358.7	+	0	1802							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGACAATGTCGATGATATTGT	0.413000													18	35					0	0	0.007413	0	0
TRRAP	8295	broad.mit.edu	37	7	98507909	98507909	+	Silent	SNP	C	C	T	rs138096391		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98507909C>T	ENST00000359863.4	+	15	1790	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	TRRAP_ENST00000446306.3_Silent_p.F527F|TRRAP_ENST00000355540.3_Silent_p.F527F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	527					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCTCCCTTCGAGAAGCAAG	0.617000													38	23					0	0	0.004878	0	0
SLC36A3	285641	broad.mit.edu	37	5	150664188	150664188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150664188C>T	ENST00000335230.3	-	7	1204	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E306K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	265						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGACGCCTTCAAATGTGAAG	0.468000													12	16					0	0	0.001855	0	0
KALRN	8997	broad.mit.edu	37	3	124053238	124053238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124053238G>A	ENST00000360013.3	+	9	1664	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	KALRN_ENST00000460856.1_Missense_Mutation_p.E513K|KALRN_ENST00000240874.3_Missense_Mutation_p.E513K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	513					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGTGGTGCATGAGGTGTTACA	0.627000													15	66					0	0	0.003163	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820742	35820742	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:35820742C>T	ENST00000399989.1	+	2	708	c.429C>T	c.(427-429)atC>atT	p.I143I	MAGEB16_ENST00000399985.1_Silent_p.I143I|MAGEB16_ENST00000399988.1_Silent_p.I143I|MAGEB16_ENST00000399992.1_Silent_p.I175I|MAGEB16_ENST00000399987.1_Silent_p.I143I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	143	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAAGATTATCATCAAAGATG	0.448000													12	43					0	0	0.000978	0	0
TRAF3	7187	broad.mit.edu	37	14	103336638	103336638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103336638C>T	ENST00000560371.1	+	2	317	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TRAF3_ENST00000392745.2_Missense_Mutation_p.P34S|TRAF3_ENST00000351691.5_Missense_Mutation_p.P34S|TRAF3_ENST00000347662.4_Missense_Mutation_p.P34S|TRAF3_ENST00000539721.1_Missense_Mutation_p.P34S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	34					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTTTTTGTCCCTGAACAAGG	0.542000													26	55					0	0	0.003954	0	0
RGS22	26166	broad.mit.edu	37	8	101083624	101083624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:101083624C>T	ENST00000360863.6	-	6	761	c.567G>A	c.(565-567)atG>atA	p.M189I	RGS22_ENST00000523437.1_Intron|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	189					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAACTTTTTCATAATTACAA	0.343000													20	26					0	0	0.001523	0	0
C6	729	broad.mit.edu	37	5	41176647	41176647	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41176647G>A	ENST00000263413.3	-	8	1362	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	C6_ENST00000337836.5_Silent_p.F366F|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	366	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGCCAGAGGTGAAGTAATGAG	0.423000													17	16					0	0	0.001216	0	0
C6orf10	10665	broad.mit.edu	37	6	32261458	32261458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:32261458G>A	ENST00000375015.4	-	26	1189	c.989C>T	c.(988-990)cCa>cTa	p.P330L	C6orf10_ENST00000533191.1_Missense_Mutation_p.P329L|C6orf10_ENST00000375007.4_Missense_Mutation_p.P329L|C6orf10_ENST00000447241.2_Missense_Mutation_p.P331L|C6orf10_ENST00000527965.1_Missense_Mutation_p.P315L|C6orf10_ENST00000442822.2_Missense_Mutation_p.P322L			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	331						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTGTCCTCTTGGTACATCTGA	0.448000													70	14					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219875569	219875569	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:219875569C>T	ENST00000341552.5	-	25	4190	c.4107G>A	c.(4105-4107)cgG>cgA	p.R1369R	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.R1369R|CCDC108_ENST00000441968.1_Silent_p.R1369R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1369						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACAAGACCCGGGCAGTGC	0.567000													13	17					0	0	0.001855	0	0
DLG5	9231	broad.mit.edu	37	10	79566529	79566529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:79566529G>A	ENST00000372391.2	-	26	4959	c.4954C>T	c.(4954-4956)Ccc>Tcc	p.P1652S	DLG5_ENST00000372388.2_Missense_Mutation_p.P1312S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1652	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TATTTGCTGGGAATCTGCCCG	0.642000													22	69					0	0	0.005443	0	0
SNHG14	104472715	broad.mit.edu	37	15	25481240	25481240	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25481240G>A	ENST00000453082.2	+	0	1934				SNORD115-36_ENST00000365629.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCT	0.488000													190	108					0	0	0.003610	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560173	19560173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:19560173G>A	ENST00000397821.3	-	16	2052	c.1762C>T	c.(1762-1764)Ccg>Tcg	p.P588S	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P327S|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P551S|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P350S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	588					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AACAGAGACGGGGAGTTGGCT	0.657000													16	48					0	0	0.006122	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963266	73963266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73963266C>T	ENST00000373468.1	-	3	1777	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E376K			Q5QGS0	K2022_HUMAN	KIAA2022	376					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTTATCTTCCTCCCCCCAG	0.473000													23	53					0	0	0.002780	0	0
STARD8	9754	broad.mit.edu	37	X	67943917	67943917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:67943917G>A	ENST00000252336.6	+	13	3280	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	STARD8_ENST00000374599.3_Missense_Mutation_p.G1050S|STARD8_ENST00000374597.3_Missense_Mutation_p.G970S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	970	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGCCTTGCGGCTTGGGCCG	0.642000													9	16					0	0	0.006214	0	0
SV2A	9900	broad.mit.edu	37	1	149885219	149885219	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:149885219G>A	ENST00000369146.3	-	2	664	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SV2A_ENST00000369145.1_Silent_p.F58F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	58					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGAGCAGGGAAGTCATCAT	0.547000													21	59					0	0	0.002780	0	0
TCL6	27004	broad.mit.edu	37	14	96130015	96130015	+	RNA	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:96130015T>A	ENST00000467865.1	+	0	423				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TCTCCCTTTCTTTTTGGACTT	0.428000			T	TRA@	T-ALL								16	24					0	0	0.003163	0	0
LAMA5	3911	broad.mit.edu	37	20	60901736	60901736	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:60901736C>T	ENST00000252999.3	-	40	5361	c.5295G>A	c.(5293-5295)gtG>gtA	p.V1765V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1765	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTCACCTCCACCAGCTGCA	0.647000													28	40					0	0	0.002445	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:75312457G>A	ENST00000395748.3	+	2	480	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	AREG_ENST00000502307.1_Missense_Mutation_p.E90K|AREG_ENST00000264487.2_Missense_Mutation_p.E90K	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	90					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000													21	70					0	0	0.006320	0	0
TNN	63923	broad.mit.edu	37	1	175049339	175049339	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:175049339G>A	ENST00000239462.4	+	4	938	c.825G>A	c.(823-825)gaG>gaA	p.E275E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	275	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACACGGAGGATTCTCTGC	0.612000													21	38					0	0	0.002299	0	0
OR51M1	390059	broad.mit.edu	37	11	5410985	5410985	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5410985T>G	ENST00000328611.3	+	1	379	c.357T>G	c.(355-357)ttT>ttG	p.F119L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	119						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTCTTTTTCCTTCATGG	0.502000													40	68					0	0	0.006230	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43576027C>T	ENST00000406487.1	-	4	887	c.789G>A	c.(787-789)gcG>gcA	p.A263A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000													44	85					0	0	0.003610	0	0
CDC27	996	broad.mit.edu	37	17	45219678	45219678	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:45219678A>G	ENST00000066544.3	-	11	1388	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	CDC27_ENST00000531206.1_Missense_Mutation_p.L438S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S|CDC27_ENST00000446365.2_Missense_Mutation_p.L371S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L438S(1)|p.L432S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGAAGAGTCCAATTTTGTAAT	0.343000													3	20					0	0	0.004672	0	0
NDN	4692	broad.mit.edu	37	15	23931405	23931405	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:23931405C>T	ENST00000331837.4	-	1	1045	c.960G>A	c.(958-960)gaG>gaA	p.E320E		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	320					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGCTAGTCCTCAGAGACAC	0.577000									Prader-Willi syndrome				71	48					0	0	0.003610	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922133	9922133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:9922133C>T	ENST00000506583.1	-	9	1008	c.791G>A	c.(790-792)aGc>aAc	p.S264N	SLC2A9_ENST00000264784.3_Missense_Mutation_p.S293N|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S264N			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	293					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTGCACGCGGCTCTCAGCCAG	0.592000													11	15					0	0	0.000673	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409764	69409764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:69409764C>T	ENST00000303714.4	+	16	1647	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGCCTTCTTCCCCCCGGAAG	0.423000									Familial Infantile Hemangioma				28	35					0	0	0.001512	0	0
TCHH	7062	broad.mit.edu	37	1	152086483	152086483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152086483C>T	ENST00000368804.1	-	1	73	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	25	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGCTGCTCCATCACAATC	0.378000													38	26					0	0	0.006230	0	0
GBF1	8729	broad.mit.edu	37	10	104130601	104130601	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:104130601A>T	ENST00000369983.3	+	29	3901	c.3641A>T	c.(3640-3642)gAa>gTa	p.E1214V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1214					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCCGGAGAGAAGAGATCAGT	0.517000													5	17					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82508685	82508685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82508685C>T	ENST00000423517.2	-	10	13959	c.13622G>A	c.(13621-13623)gGa>gAa	p.G4541E	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.G4541E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCGCACTTCCCCCAGGAAG	0.358000													15	5					0	0	0.004990	0	0
KRT78	196374	broad.mit.edu	37	12	53233725	53233725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53233725C>T	ENST00000359499.4	-	7	772	c.761G>A	c.(760-762)gGg>gAg	p.G254E	KRT78_ENST00000304620.4_Missense_Mutation_p.G364E			Q8N1N4	K2C78_HUMAN	keratin 78	364	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCCAGCTCCCCACGCTGCTC	0.617000													6	10					0	0	0.001168	0	0
NAT16	375607	broad.mit.edu	37	7	100817804	100817804	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100817804C>T	ENST00000300303.2	-	2	523	c.285G>A	c.(283-285)gtG>gtA	p.V95V	NAT16_ENST00000455377.1_Silent_p.V95V|NAT16_ENST00000443096.1_Silent_p.V95V	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	95	N-acetyltransferase.						N-acetyltransferase activity										TGGCCAGCACCACCGTGCGGT	0.672000													15	11					0	0	0.003163	0	0
LILRB4	11006	broad.mit.edu	37	19	55176613	55176613	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55176613G>T	ENST00000391736.1	+	8	1054	c.739G>T	c.(739-741)Ggg>Tgg	p.G247W	LILRB4_ENST00000391734.3_Missense_Mutation_p.G247W|LILRB4_ENST00000430952.2_Missense_Mutation_p.G247W|LILRB4_ENST00000270452.2_Missense_Mutation_p.G247W|LILRB4_ENST00000391733.3_Missense_Mutation_p.G247W	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	247						integral to membrane|plasma membrane	antigen binding|receptor activity	p.G247R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATGCCTACAGGGTCAGTCCC	0.652000													12	4					0.00010058	0.000127809	0.001368	1	0
TTN	7273	broad.mit.edu	37	2	179579087	179579087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179579087C>T	ENST00000589042.1	-	91	26638	c.26414G>A	c.(26413-26415)gGa>gAa	p.G8805E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8488E|TTN_ENST00000342992.6_Missense_Mutation_p.G7561E|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8488	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTATTTTCCAGCATTGGC	0.398000													28	40					0	0	0.007291	0	0
ZNF445	353274	broad.mit.edu	37	3	44492971	44492971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:44492971G>A	ENST00000425708.2	-	3	774	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	ZNF445_ENST00000396077.2_Missense_Mutation_p.P145S			P59923	ZN445_HUMAN	zinc finger protein 445	145					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCAGGGCCCGGGTCCTGGCAA	0.537000													33	15					0	0	0.002096	0	0
NPY1R	4886	broad.mit.edu	37	4	164247320	164247320	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:164247320G>A	ENST00000296533.2	-	2	918	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	129					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAACCAGAGAGAAAATGGACA	0.413000													27	18					0	0	0.001512	0	0
TRAT1	50852	broad.mit.edu	37	3	108565935	108565935	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108565935A>G	ENST00000295756.6	+	4	403	c.173A>G	c.(172-174)gAa>gGa	p.E58G	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Missense_Mutation_p.E21G	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	58					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TATTATATTGAAGACACACCA	0.269000													10	41					0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2788691	2788691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:2788691C>T	ENST00000399655.1	+	42	5438	c.5173C>T	c.(5173-5175)Cag>Tag	p.Q1725*	CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.Q1745*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.Q1773*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.Q1733*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.Q1750*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.Q1766*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.Q1742*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.Q1733*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.Q1753*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.Q1744*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.Q1731*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.Q1744*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.Q1725*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.Q1744*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.Q1725*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.Q1725*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1773					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTTCACCACTCAGCGCCCGCT	0.647000													17	6					0	0	0.004990	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900747	28900747	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28900747C>T	ENST00000528584.1	+	0	162					NR_036443.1																						CGCTGCACTCCCTGACTCAGT	0.622000													22	49					0	0	0.002780	0	0
SON	6651	broad.mit.edu	37	21	34922795	34922795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:34922795C>T	ENST00000356577.4	+	3	1733	c.1258C>T	c.(1258-1260)Ctt>Ttt	p.L420F	SON_ENST00000381679.4_Missense_Mutation_p.L420F|SON_ENST00000300278.4_Missense_Mutation_p.L420F|SON_ENST00000290239.6_Missense_Mutation_p.L420F|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	420					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCAGGGCCCCTTTCTACCCC	0.647000													17	41					0	0	0.001523	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099653	142099653	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142099653G>A	ENST00000390359.3	-	0	187																											CCAAAAAAGGGATACATGACC	0.522000													12	39					0	0	0.002450	0	0
RNF111	54778	broad.mit.edu	37	15	59383267	59383267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:59383267C>T	ENST00000348370.4	+	12	3086	c.2653C>T	c.(2653-2655)Cat>Tat	p.H885Y	RNF111_ENST00000561186.1_Missense_Mutation_p.H894Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H894Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H894Y|RNF111_ENST00000557998.1_Missense_Mutation_p.H885Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	885					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGAACTGATTCATTTGGAAGA	0.338000													66	46					0	0	0.003610	0	0
REV1	51455	broad.mit.edu	37	2	100058806	100058806	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:100058806T>C	ENST00000258428.3	-	5	704	c.476A>G	c.(475-477)aAt>aGt	p.N159S	REV1_ENST00000393445.3_Missense_Mutation_p.N159S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	159					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGGCTATATTGCTTGGACC	0.418000								Direct reversal of damage					35	25					0	0	0.001951	0	0
REG3G	130120	broad.mit.edu	37	2	79255032	79255032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:79255032C>T	ENST00000272324.5	+	5	617	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	REG3G_ENST00000409471.1_Missense_Mutation_p.H99Y|REG3G_ENST00000393897.2_Missense_Mutation_p.H145Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	145	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCCTGGCCACTGTGGGAG	0.502000													30	35					0	0	0.001512	0	0
SLC1A1	6505	broad.mit.edu	37	9	4572216	4572216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:4572216G>A	ENST00000262352.3	+	7	831	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	199					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CAAAACAAAGGAATACAAAAT	0.368000													34	39					0	0	0.006230	0	0
ZNF257	113835	broad.mit.edu	37	19	22272020	22272020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:22272020G>A	ENST00000594947.1	+	4	1612	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTACAAATGTGAAGAATGTGG	0.408000													5	28					0	0	0.000602	0	0
SPATA8	145946	broad.mit.edu	37	15	97328297	97328297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:97328297C>T	ENST00000328504.3	+	3	535	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	SPATA8_ENST00000558553.1_Missense_Mutation_p.S49L	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	90										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCCACTGATTCAGAAGATAAA	0.448000													17	67					0	0	0.004990	0	0
APBA2	321	broad.mit.edu	37	15	29390743	29390743	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:29390743C>T	ENST00000558402.1	+	10	1901	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	APBA2_ENST00000558330.1_Silent_p.S422S|APBA2_ENST00000411764.1_Silent_p.S422S|APBA2_ENST00000561069.1_Silent_p.S434S|APBA2_ENST00000558259.1_Silent_p.S434S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	434	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCTTCATTTCCACCCAGAGGA	0.448000													16	67					0	0	0.001216	0	0
TRIML2	205860	broad.mit.edu	37	4	189022305	189022305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:189022305C>T	ENST00000512729.1	-	3	609	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E79K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E129K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	79							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATATGCATTCCTGCTGTCTC	0.438000													8	39					0	0	0.004482	0	0
NXPE1	120400	broad.mit.edu	37	11	114393615	114393615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:114393615G>A	ENST00000536271.1	-	3	1485	c.242C>T	c.(241-243)cCc>cTc	p.P81L	NXPE1_ENST00000424269.1_Missense_Mutation_p.P365L|NXPE1_ENST00000251921.2_Missense_Mutation_p.P223L					neurexophilin and PC-esterase domain family, member 1																		TACAACTTTGGGGAAGTAGTA	0.368000													5	14					0	0	0.000602	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320734	78320734	+	Silent	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:78320734A>C	ENST00000466548.1	+	5	962	c.936A>C	c.(934-936)acA>acC	p.T312T	SLAIN1_ENST00000488699.1_Silent_p.T170T|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000418532.1_Silent_p.T93T|SLAIN1_ENST00000267219.8_Silent_p.T93T|SLAIN1_ENST00000351546.3_Silent_p.T49T|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Silent_p.T49T	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	312										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AAAAAGGGACATGTAGTGATC	0.408000													11	13					0	0	0.000978	0	0
MIR622	693207	broad.mit.edu	37	13	90883465	90883465	+	RNA	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:90883465A>G	ENST00000385123.1	+	0	30					NR_030754.1																						TGGTCTCAGCAGATTGAGGAG	0.532000													11	18					0	0	0.001855	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291746	141291746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:141291746G>A	ENST00000247452.3	-	3	375	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	10						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACGTTGCGGAATGGAACG	0.542000										HNSCC(46;0.14)			34	100					0	0	0.003271	0	0
OR6K6	128371	broad.mit.edu	37	1	158724705	158724705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158724705C>T	ENST00000368144.2	+	1	196	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CAGTGGGAATCAGACAATGGT	0.433000													13	53					0	0	0.001855	0	0
PODNL1	79883	broad.mit.edu	37	19	14048660	14048660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:14048660C>T	ENST00000538517.2	-	2	422	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	PODNL1_ENST00000254320.3_Start_Codon_SNP_p.M1I|PODNL1_ENST00000538371.2_Missense_Mutation_p.G60S|PODNL1_ENST00000339560.5_Missense_Mutation_p.G62S	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	135	LRRNT.|Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGGTCCAAGCCATCACAGTCC	0.687000													7	4					0	0	0.000673	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668094	94668094	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:94668094C>T	ENST00000370217.3	-	11	1399	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	ARHGAP29_ENST00000260526.6_Intron			Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	0					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGAAAAAGATCGTTACTTTTT	0.418000													15	26					0	0	0.004007	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427641	197427641	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:197427641G>A	ENST00000273582.5	-	7	1469	c.924C>T	c.(922-924)tcC>tcT	p.S308S	KIAA0226_ENST00000296343.5_Silent_p.S368S|KIAA0226_ENST00000449205.1_Silent_p.S368S|KIAA0226_ENST00000389665.5_Silent_p.S368S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	368	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCCCCTAAGGAAGAGGCAG	0.592000													10	40					0	0	0.006214	0	0
AZGP1	563	broad.mit.edu	37	7	99565973	99565973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:99565973C>T	ENST00000411734.1	-	3	414	c.409G>A	c.(409-411)Gat>Aat	p.D137N	AZGP1_ENST00000292401.4_Missense_Mutation_p.D140N			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	140					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.D140N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCTTTCCATCATAGTAATAT	0.498000													147	86					0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10114809	10114809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10114809C>T	ENST00000264828.3	-	5	692	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	203	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ATCAGCAGCTCCTGAATGTCT	0.612000													15	48					0	0	0.002450	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654154	61654154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:61654154C>T	ENST00000397985.2	+	7	1023	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SERPINB8_ENST00000353706.2_Missense_Mutation_p.S256L|SERPINB8_ENST00000542677.1_Missense_Mutation_p.S74L|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	256					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGGACAAATTCAGAAAAGTTG	0.373000													58	19					0	0	0.003610	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291345	126291345	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:126291345C>T	ENST00000383572.2	-	3	520	c.42G>A	c.(40-42)ctG>ctA	p.L14L	TXNRD3NB_ENST00000404489.2_Silent_p.L14L	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	14										endometrium(1)|large_intestine(2)|skin(2)	5						GCTCAGCTTTCAGCTCCGGCT	0.612000													8	27					0	0	0.004482	0	0
POU1F1	5449	broad.mit.edu	37	3	87310438	87310438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:87310438C>T	ENST00000350375.2	-	5	774	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.R243Q	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	217					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217Q(2)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGTTGTTCTTCGTTTTCTTTT	0.289000													9	6					0	0	0.000978	0	0
DCC	1630	broad.mit.edu	37	18	50866129	50866129	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:50866129G>A	ENST00000442544.2	+	15	2827	c.2211G>A	c.(2209-2211)caG>caA	p.Q737Q	DCC_ENST00000581580.1_Silent_p.Q392Q|DCC_ENST00000412726.1_Silent_p.Q585Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	737	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAGGCCCCAGACTAACTGCA	0.463000													24	3					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179578871	179578871	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179578871G>A	ENST00000589042.1	-	92	26738	c.26514C>T	c.(26512-26514)tcC>tcT	p.S8838S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S8521S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7594S|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8521	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTTATGGATTCTGGCT	0.378000													14	18					0	0	0.002450	0	0
OR13C8	138802	broad.mit.edu	37	9	107332173	107332173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107332173C>T	ENST00000335040.1	+	1	725	c.725C>T	c.(724-726)tCa>tTa	p.S242L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACCTGCTCAGCCCACCTG	0.408000													36	12					0	0	0.004878	0	0
NPHS1	4868	broad.mit.edu	37	19	36321760	36321760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36321760C>T	ENST00000378910.5	-	28	3579	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	NPHS1_ENST00000353632.6_Missense_Mutation_p.D1154N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1194	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.D1194N(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACTTCATCGTAGAGGGGT	0.527000													57	31					0	0	0.003610	0	0
MARCO	8685	broad.mit.edu	37	2	119750850	119750850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119750850G>A	ENST00000541757.1	+	17	1549	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	MARCO_ENST00000327097.4_Missense_Mutation_p.G468E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	468	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TACTCCAAAGGAAGGGCCCTG	0.547000													28	37					0	0	0.006320	0	0
TBX5	6910	broad.mit.edu	37	12	114804111	114804111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:114804111G>A	ENST00000310346.4	-	8	1507	c.841C>T	c.(841-843)Ctc>Ttc	p.L281F	TBX5_ENST00000405440.2_Missense_Mutation_p.L281F|TBX5_ENST00000526441.1_Missense_Mutation_p.L281F|TBX5_ENST00000349716.5_Missense_Mutation_p.L231F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	281					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGGTGGAGAGAGCTCGAGAC	0.557000													29	29					0	0	0.001512	0	0
DAGLA	747	broad.mit.edu	37	11	61495658	61495658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:61495658G>A	ENST00000257215.5	+	7	786	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	224					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCTCTTTGCGGAGTTCTTCCG	0.622000													26	49					0	0	0.002445	0	0
TRANK1	9881	broad.mit.edu	37	3	36888715	36888715	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36888715G>A	ENST00000429976.2	-	15	5125	c.4878C>T	c.(4876-4878)ctC>ctT	p.L1626L	TRANK1_ENST00000428977.2_Silent_p.L1076L|TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000301807.6_Silent_p.L1076L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1626					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATTCACCATGAGAGATCGAC	0.458000													6	13					0	0	0.001984	0	0
ATP2B2	491	broad.mit.edu	37	3	10400474	10400474	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:10400474G>A	ENST00000397077.1	-	13	2477	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	ATP2B2_ENST00000352432.4_Silent_p.F679F|ATP2B2_ENST00000343816.4_Silent_p.F665F|ATP2B2_ENST00000383800.4_Silent_p.F634F|ATP2B2_ENST00000360273.2_Silent_p.F679F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	679					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGCTGCTGGGGAAGTCGCGGT	0.632000													21	14					0	0	0.001216	0	0
VEGFC	7424	broad.mit.edu	37	4	177608491	177608491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:177608491C>T	ENST00000280193.2	-	6	1410	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	332	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ATCAAATTCTCGGTTGGCCCC	0.468000													74	61					0	0	0.003610	0	0
KLHL13	90293	broad.mit.edu	37	X	117043419	117043419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117043419C>T	ENST00000371876.1	-	4	3479	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	KLHL13_ENST00000541812.1_Missense_Mutation_p.G388E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G353E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G388E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G353E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G404E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G353E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G362E|KLHL13_ENST00000539496.1_Missense_Mutation_p.G407E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	404					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G404E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCGTTTTTCCTTTTGTATC	0.433000													28	15					0	0	0.004656	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960201	117960201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:117960201C>T	ENST00000310164.2	+	4	1501	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAATAACGGTCCTGGGGAGAT	0.517000													23	61					0	0	0.002780	0	0
NLRP4	147945	broad.mit.edu	37	19	56392888	56392888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56392888G>A	ENST00000301295.6	+	10	3342	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E918K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E899K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	974							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACGGCTGAGGAAGAGAGAAA	0.433000													19	6					0	0	0.007413	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62483386	62483386	+	Missense_Mutation	SNP	C	C	T	rs755246		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62483386C>T	ENST00000301785.5	-	12	2197	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.D669N	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	669	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCCGGTTGTCGTAGCCTCGG	0.612000													5	13					0	0	0.001168	0	0
TRIM61	391712	broad.mit.edu	37	4	165890966	165890966	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:165890966C>T	ENST00000329314.5	-	3	801	c.189G>A	c.(187-189)agG>agA	p.R63R		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	63						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TTATAAATTTCCTTTCTGGAC	0.453000													13	25					0	0	0.003163	0	0
NUPL1	9818	broad.mit.edu	37	13	25882031	25882031	+	Silent	SNP	C	C	T	rs143556359	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:25882031C>T	ENST00000463407.1	+	2	338	c.195C>T	c.(193-195)acC>acT	p.T65T	NUPL1_ENST00000381718.3_Silent_p.T65T|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Silent_p.T65T			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	65	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GTTTTGGAACCGGGCTCTTTG	0.448000													32	27					0	0	0.002096	0	0
SV2C	22987	broad.mit.edu	37	5	75594628	75594628	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:75594628G>A	ENST00000502798.2	+	10	1954	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.G504G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	504					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATTCATAGGGGTCAAGTTCA	0.373000													11	43					0	0	0.001368	0	0
BNC1	646	broad.mit.edu	37	15	83932634	83932634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:83932634G>A	ENST00000345382.2	-	4	1454	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.P450S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	457					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTGAACCAGGGTAGCTGGGA	0.542000													47	17					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069690	9069690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9069690G>A	ENST00000397910.4	-	3	17959	c.17756C>T	c.(17755-17757)cCc>cTc	p.P5919L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5921	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGGAGGGCTTTG	0.498000													12	40					0	0	0.001368	0	0
APOA4	337	broad.mit.edu	37	11	116691654	116691654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:116691654C>T	ENST00000357780.3	-	3	1234	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		tgctgttgctccAGCTCAGGG	0.602000													95	190					0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113212404	113212404	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:113212404G>A	ENST00000401783.2	-	24	4374	c.4038C>T	c.(4036-4038)gtC>gtT	p.V1346V	SVEP1_ENST00000374469.1_Silent_p.V1323V|SVEP1_ENST00000302728.8_Silent_p.V1346V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1346	EGF-like 5; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACACTCATCGACGTTCTTTC	0.448000													152	48					0	0	0.003610	0	0
TYW1	55253	broad.mit.edu	37	7	66548429	66548429	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:66548429C>T	ENST00000359626.5	+	11	1451	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	429					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACCACACCAACCCCGTGGGCA	0.418000													14	55					0	0	0.002450	0	0
TICRR	90381	broad.mit.edu	37	15	90167874	90167874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:90167874C>T	ENST00000268138.7	+	20	4438	c.4333C>T	c.(4333-4335)Ctc>Ttc	p.L1445F	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.L1444F					TOPBP1-interacting checkpoint and replication regulator																		AGGCCCTGGTCTCAGGAGTGA	0.557000													68	35					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228433237	228433237	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228433237A>G	ENST00000570156.2	+	13	3955	c.3881A>G	c.(3880-3882)gAc>gGc	p.D1294G	OBSCN_ENST00000284548.11_Missense_Mutation_p.D1202G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1202G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	274	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTACAAGGACGGGAAGAAG	0.602000													13	30					0	0	0.001368	0	0
ZNF430	80264	broad.mit.edu	37	19	21240360	21240360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:21240360C>T	ENST00000261560.5	+	5	1427	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTCCTCGACCCTTACTAAACA	0.353000													8	17					0	0	0.004482	0	0
CMTR2	55783	broad.mit.edu	37	16	71318296	71318296	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:71318296A>T	ENST00000338099.5	-	3	1864	c.1528T>A	c.(1528-1530)Ttt>Att	p.F510I	FTSJD1_ENST00000434935.2_Missense_Mutation_p.F510I			Q8IYT2	FTSJ1_HUMAN		510						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCATTGCAAAAAGGAGAACAT	0.358000													17	13					0	0	0.004007	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111472	142111472	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142111472G>A	ENST00000390378.1	-	0	263																											TATAGTTAGGGAACTGGTGAC	0.517000													63	35					0	0	0.003610	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101771	135101771	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135101771G>A	ENST00000368563.2	-	11	1940	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	TUBGCP2_ENST00000417178.2_Silent_p.F398F|TUBGCP2_ENST00000252936.3_Silent_p.F528F|TUBGCP2_ENST00000368562.1_Silent_p.F121F|TUBGCP2_ENST00000543663.1_Silent_p.F556F	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	528					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGAAGTGCACGAAGAAGTCGC	0.677000													32	13					0	0	0.001786	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725157	140725157	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140725157C>T	ENST00000253812.6	+	1	1557	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGAGATCCTTCGACTACG	0.557000													54	44					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179430967	179430967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179430967C>T	ENST00000589042.1	-	326	80116	c.79892G>A	c.(79891-79893)gGt>gAt	p.G26631D	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17758D|TTN_ENST00000460472.2_Missense_Mutation_p.G17566D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24990D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24063D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17691D|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24990	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAATTCACCTTCCTCTCG	0.388000													31	43					0	0	0.001786	0	0
GDF2	2658	broad.mit.edu	37	10	48413755	48413755	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:48413755C>T	ENST00000249598.1	-	2	1272	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	371					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TAGCGTGTTTCGTCGGCGTCA	0.582000													15	14					0	0	0.002450	0	0
ZNF224	7767	broad.mit.edu	37	19	44605286	44605286	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44605286G>A	ENST00000336976.6	+	5	397	c.142_splice	c.e5-1	p.G48_splice		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	48	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CTGTTTGCAGGACATCAAGCA	0.388000													13	8					0	0	0.001855	0	0
DSC2	1824	broad.mit.edu	37	18	28669479	28669479	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28669479A>G	ENST00000280904.6	-	5	996	c.553T>C	c.(553-555)Tta>Cta	p.L185L	DSC2_ENST00000251081.6_Silent_p.L185L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	185	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACATAAAATAAATTCCGAGGT	0.378000													9	5					0	0	0.006214	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:111155953C>T	ENST00000262839.2	-	3	1384	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000													44	42					0	0	0.002522	0	0
OR52R1	119695	broad.mit.edu	37	11	4825161	4825161	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4825161G>A	ENST00000380382.1	-	1	686	c.687C>T	c.(685-687)atC>atT	p.I229I	OR52R1_ENST00000356069.2_Silent_p.I150I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGCATCACGATGGTCCCCA	0.572000													15	20					0	0	0.002450	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181695	128181695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:128181695C>T	ENST00000469083.1	-	2	2951	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G132R			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	132					protein folding		heat shock protein binding|unfolded protein binding	p.G132R(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GAGAAGGCCCCCCTCAGGCCA	0.597000													4	36					0	0	0.000248	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853392	12853392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12853392C>T	ENST00000332296.7	+	2	119	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	6										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGGCCCCACCCAGACT	0.537000													36	65					0	0	0.004878	0	0
FAT4	79633	broad.mit.edu	37	4	126400924	126400924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126400924C>T	ENST00000394329.3	+	14	12515	c.12502C>T	c.(12502-12504)Cgc>Tgc	p.R4168C	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4168	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCTTGTACTCGCAGCCCATG	0.418000													9	15					0	0	0.006214	0	0
SCN8A	6334	broad.mit.edu	37	12	52056817	52056817	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52056817C>T	ENST00000354534.5	+	2	394	c.216C>T	c.(214-216)atC>atT	p.I72I	SCN8A_ENST00000545061.1_Silent_p.I72I|SCN8A_ENST00000550891.1_Silent_p.I72I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	72					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACGGGGACATCCCCCAAGGCC	0.557000													42	32					0	0	0.001951	0	0
IKZF3	22806	broad.mit.edu	37	17	37922397	37922397	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:37922397G>A	ENST00000346872.3	-	8	1237	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	IKZF3_ENST00000467757.1_Silent_p.N336N|IKZF3_ENST00000377952.2_Silent_p.N171N|IKZF3_ENST00000439016.2_Silent_p.N297N|IKZF3_ENST00000377945.3_Silent_p.N258N|IKZF3_ENST00000394189.2_Silent_p.N210N|IKZF3_ENST00000377958.2_Silent_p.N305N|IKZF3_ENST00000351680.3_Silent_p.N353N|IKZF3_ENST00000350532.3_Silent_p.N353N|IKZF3_ENST00000346243.3_Silent_p.N314N|IKZF3_ENST00000535189.1_Silent_p.N358N|IKZF3_ENST00000439167.2_Silent_p.N319N|IKZF3_ENST00000583368.1_Silent_p.N145N|IKZF3_ENST00000377944.3_Silent_p.N249N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	392					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTCTTCATGGTTGCTGTCAG	0.532000													117	23					0	0	0.003610	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928204	21928204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:21928204G>A	ENST00000542643.2	-	22	2005	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S606F|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S627F|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S573F|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S542F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	542					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CATCTCTGGGGAGCTCTGAGT	0.667000													35	21					0	0	0.004878	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430263	27430263	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27430263G>A	ENST00000310574.3	-	3	729	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	SLC5A6_ENST00000408041.1_Silent_p.L86L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	86					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGCACACCCAGGATGGCCACG	0.592000													17	16					0	0	0.006122	0	0
IL18R1	8809	broad.mit.edu	37	2	102984340	102984340	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:102984340G>A	ENST00000409599.1	+	4	470	c.114G>A	c.(112-114)ctG>ctA	p.L38L	IL18R1_ENST00000334376.3_Silent_p.L38L|IL18R1_ENST00000233957.1_Silent_p.L38L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	38	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTCTATCTGAAACATTGCT	0.388000													13	19					0	0	0.002450	0	0
HRG	3273	broad.mit.edu	37	3	186395302	186395302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:186395302G>A	ENST00000232003.4	+	7	1288	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	403	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		catccccatggacaccatccc	0.572000													4	5					0	0	0.000602	0	0
REEP1	65055	broad.mit.edu	37	2	86459843	86459843	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:86459843G>T	ENST00000165698.5	-	6	643	c.500C>A	c.(499-501)cCc>cAc	p.P167H	REEP1_ENST00000540790.1_Missense_Mutation_p.P146H|REEP1_ENST00000538924.1_Missense_Mutation_p.P174H|REEP1_ENST00000535845.1_Missense_Mutation_p.P140H|REEP1_ENST00000541910.1_Missense_Mutation_p.P89T	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	167					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGCCCGAGGGAGCAGGGGC	0.652000													19	21					1.28384e-07	1.6445e-07	0.001882	1	0
SCN5A	6331	broad.mit.edu	37	3	38595922	38595922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38595922G>A	ENST00000413689.1	-	27	4854	c.4661C>T	c.(4660-4662)cCt>cTt	p.P1554L	SCN5A_ENST00000425664.1_Missense_Mutation_p.P1536L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1536L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1500L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1553L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1553L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1500L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1553L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1500L|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000333535.4_Missense_Mutation_p.P1554L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1554					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATTTTCTCAGGACTTTGGTC	0.478000													24	83					0	0	0.004656	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086823	2086823	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2086823C>A	ENST00000424542.2	+	4	827	c.689C>A	c.(688-690)cCc>cAc	p.P230H	SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.P230H|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.P119H|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.P124H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	230	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GTCGTGGACCCCGAGACAGAT	0.672000													19	19					0.000958276	0.001216	0.007413	1	0
PCLO	27445	broad.mit.edu	37	7	82764940	82764940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82764940C>T	ENST00000423517.2	-	3	2263	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	PCLO_ENST00000333891.8_Missense_Mutation_p.M642I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	588	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGCTCTTTTCATTTGACAGT	0.413000													9	2					0	0	0.004482	0	0
OR7E24	26648	broad.mit.edu	37	19	9361724	9361724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9361724C>T	ENST00000456448.1	+	1	119	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTACTTATGTCCTATTTTCCA	0.388000													3	0					0	0	0.004672	0	0
AMY1C	278	broad.mit.edu	37	1	104297230	104297230	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:104297230T>G	ENST00000370079.3	+	6	1052	c.988T>G	c.(988-990)Ttc>Gtc	p.F330V		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	330					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TATACTTACCTTCTGGGATGC	0.388000													50	150					0	0	0.003610	0	0
LAD1	3898	broad.mit.edu	37	1	201355553	201355553	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:201355553G>A	ENST00000391967.2	-	3	1237	c.936C>T	c.(934-936)gcC>gcT	p.A312A	LAD1_ENST00000367313.3_Silent_p.A326A	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	312						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCCAGGGAGGGCCCTTCCTC	0.682000													16	32					0	0	0.004007	0	0
ZNF358	140467	broad.mit.edu	37	19	7584404	7584404	+	Silent	SNP	C	C	T	rs146005675		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:7584404C>T	ENST00000597229.1	+	2	446	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ZNF358_ENST00000394341.2_Silent_p.F92F|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	92					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTTCGAGTTTCGACCTCGATC	0.607000													24	94					0	0	0.001786	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026062	103026062	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:103026062C>T	ENST00000375735.2	+	25	3720	c.3576C>T	c.(3574-3576)atC>atT	p.I1192I	DYNC2H1_ENST00000398093.3_Silent_p.I1192I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1192	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTAACAGATCGTAATTCCTA	0.338000													4	11					0	0	0.000602	0	0
DACH1	1602	broad.mit.edu	37	13	72440848	72440848	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:72440848G>A	ENST00000305425.4	-	1	482	c.60C>T	c.(58-60)atC>atT	p.I20I	DACH1_ENST00000359684.2_Silent_p.I20I|DACH1_ENST00000313174.7_Silent_p.I20I|DACH1_ENST00000354591.4_Silent_p.I20I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	20					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGACGTGGAGATTGGGGGTT	0.637000													10	12					0	0	0.000673	0	0
SMTN	6525	broad.mit.edu	37	22	31486981	31486981	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:31486981C>T	ENST00000333137.7	+	10	1190	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SMTN_ENST00000347557.2_Silent_p.F324F|SMTN_ENST00000358743.1_Silent_p.F324F	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	324					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCCTCATTCCAGCGGGCTG	0.602000													61	34					0	0	0.003610	0	0
BFSP1	631	broad.mit.edu	37	20	17479505	17479505	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:17479505G>A	ENST00000377873.3	-	6	955	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	BFSP1_ENST00000544874.1_Silent_p.L167L|BFSP1_ENST00000377868.2_Silent_p.L181L|BFSP1_ENST00000536626.1_Silent_p.L167L	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	306	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TACCGGTCCAGCTCATTCTTC	0.552000													22	33					0	0	0.002299	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643687	94643687	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:94643687G>A	ENST00000260526.6	-	21	2699	c.2517C>T	c.(2515-2517)tcC>tcT	p.S839S	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	839	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAAGTTTTTGGAGTTCATCT	0.413000													9	44					0	0	0.000673	0	0
VAV1	7409	broad.mit.edu	37	19	6848067	6848067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6848067G>A	ENST00000304076.2	+	22	2099	c.2005G>A	c.(2005-2007)Ggg>Agg	p.G669R	VAV1_ENST00000599806.1_Missense_Mutation_p.G636R|VAV1_ENST00000602142.1_Missense_Mutation_p.G691R|VAV1_ENST00000596764.1_Missense_Mutation_p.G659R|VAV1_ENST00000539284.1_Missense_Mutation_p.G594R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	691					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCGCTCGGACGGGACTTTCTT	0.597000													89	46					0	0	0.003610	0	0
CCDC54	84692	broad.mit.edu	37	3	107097110	107097110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:107097110C>T	ENST00000261058.1	+	1	923	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	226										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACGTAACCATCAAAATGCATC	0.378000													42	34					0	0	0.001951	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32132466	32132466	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:32132466G>A	ENST00000375250.5	-	7	1460	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	ARHGAP12_ENST00000344936.2_Silent_p.L407L|ARHGAP12_ENST00000311380.4_Silent_p.L360L|ARHGAP12_ENST00000396144.4_Silent_p.L407L|ARHGAP12_ENST00000375245.4_Silent_p.L360L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	407					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CGCCTGTCCAGGCTCCTACTT	0.358000													18	9					0	0	0.004990	0	0
HTT	3064	broad.mit.edu	37	4	3149759	3149759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:3149759C>T	ENST00000355072.5	+	26	3468	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1108					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGAGAAGTTCATGGGCCTCT	0.577000													18	16					0	0	0.001216	0	0
LGALS9	3965	broad.mit.edu	37	17	25974437	25974437	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:25974437C>T	ENST00000395473.2	+	10	2368	c.900C>T	c.(898-900)ttC>ttT	p.F300F	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Silent_p.F256F|LGALS9_ENST00000302228.5_Silent_p.F268F	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	300	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AAATGCCCTTCGTCCGTGGCC	0.587000													37	1					0	0	0.006230	0	0
TRIML2	205860	broad.mit.edu	37	4	189022258	189022258	+	Silent	SNP	C	C	T	rs141580546	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:189022258C>T	ENST00000512729.1	-	3	656	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TRIML2_ENST00000326754.3_Silent_p.A94A|TRIML2_ENST00000536972.1_Silent_p.A144A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	94							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTTGATCGCTTGATTCA	0.433000													20	19					0	0	0.001216	0	0
DSG1	1828	broad.mit.edu	37	18	28923487	28923487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28923487G>A	ENST00000257192.4	+	12	1974	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	588					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGTTCCCGAATGTTCAGA	0.488000													37	11					0	0	0.003755	0	0
OR11H4	390442	broad.mit.edu	37	14	20711184	20711184	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20711184C>T	ENST00000315409.2	+	1	287	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTTGCCTTCCTTGAGATCT	0.468000													68	81					0	0	0.003610	0	0
METTL5	29081	broad.mit.edu	37	2	170677747	170677747	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170677747C>T	ENST00000410097.1	-	4	396	c.261G>A	c.(259-261)ttG>ttA	p.L87L	METTL5_ENST00000409965.1_Silent_p.L87L|METTL5_ENST00000409837.1_Silent_p.L87L|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000260953.5_Silent_p.L87L|METTL5_ENST00000392640.2_Silent_p.L87L|METTL5_ENST00000308099.3_Silent_p.L87L			Q9NRN9	METL5_HUMAN	methyltransferase like 5	87							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TAAATATTTCCAATGCGTCTT	0.338000													15	41					0	0	0.004990	0	0
DAND5	199699	broad.mit.edu	37	19	13084240	13084240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:13084240G>A	ENST00000317060.2	+	2	541	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	121	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ATACGCCTCCGAAATCATCTG	0.617000													13	77					0	0	0.001855	0	0
HTR3B	9177	broad.mit.edu	37	11	113815350	113815350	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113815350C>T	ENST00000260191.2	+	8	1220	c.963C>T	c.(961-963)atC>atT	p.I321I	HTR3B_ENST00000537778.1_Silent_p.I310I	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	321					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTAAGTCCATCGTGTTGGTCA	0.537000													13	33					0	0	0.001368	0	0
SAMD12	401474	broad.mit.edu	37	8	119391884	119391884	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:119391884C>T	ENST00000409003.4	-	4	506	c.378G>A	c.(376-378)caG>caA	p.Q126Q	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Silent_p.Q126Q	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	126	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAGGTTCTCCTGGGCAATCC	0.478000													11	29					0	0	0.001368	0	0
TTC16	158248	broad.mit.edu	37	9	130480033	130480033	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:130480033C>T	ENST00000373289.3	+	4	488	c.408C>T	c.(406-408)acC>acT	p.T136T	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	136							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCGCCTCACCTTTGTGCTCT	0.637000													31	13					0	0	0.004289	0	0
OSMR	9180	broad.mit.edu	37	5	38904469	38904469	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:38904469C>T	ENST00000274276.3	+	9	1551	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	383	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGTTTCCATCAAGGTGAACG	0.433000													19	23					0	0	0.006122	0	0
ZNF257	113835	broad.mit.edu	37	19	22270835	22270835	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:22270835T>A	ENST00000594947.1	+	4	427	c.283T>A	c.(283-285)Ttc>Atc	p.F95I	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAATATTTTTTCCAAAAAGT	0.338000													25	25					0	0	0.004656	0	0
MYH4	4622	broad.mit.edu	37	17	10356210	10356210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:10356210C>T	ENST00000255381.2	-	25	3261	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTCTAAGTCCATGCAAAGT	0.373000													61	15					0	0	0.003610	0	0
HSPG2	3339	broad.mit.edu	37	1	22206620	22206620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:22206620G>A	ENST00000374695.3	-	17	2402	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	775	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCATACACAGGGTCACAGGAG	0.557000													11	57					0	0	0.000978	0	0
ACAD10	80724	broad.mit.edu	37	12	112174755	112174755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:112174755C>T	ENST00000455480.2	+	13	1931	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S156F|ACAD10_ENST00000549590.1_Missense_Mutation_p.S554F|ACAD10_ENST00000313698.4_Missense_Mutation_p.S554F	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	554							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGGCTTTTTCCTTTTTCCGT	0.527000													50	8					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28525345	28525345	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28525345G>A	ENST00000261609.7	-	5	519	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	137					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGAGTCGCAGGGCTGAGAGGG	0.493000													57	27					0	0	0.003610	0	0
RASAL1	8437	broad.mit.edu	37	12	113543632	113543632	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:113543632G>A	ENST00000546530.1	-	17	2005	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	RASAL1_ENST00000261729.5_Silent_p.L572L|RASAL1_ENST00000446861.3_Silent_p.L572L|RASAL1_ENST00000548055.1_Silent_p.L573L|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	572	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGCTTCAGCAGATAGCCTTCT	0.632000													29	69					0	0	0.001786	0	0
POLL	27343	broad.mit.edu	37	10	103340064	103340064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:103340064G>A	ENST00000370162.3	-	8	1798	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L	POLL_ENST00000370172.1_Missense_Mutation_p.P347L|POLL_ENST00000299206.4_Missense_Mutation_p.P435L|DPCD_ENST00000470165.1_3'UTR|POLL_ENST00000370158.3_Missense_Mutation_p.P160L|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.P172L|DPCD_ENST00000416979.2_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.P435L|POLL_ENST00000339310.3_Missense_Mutation_p.P158L|POLL_ENST00000370168.3_Missense_Mutation_p.P108L	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	435					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCGGCCATCTGGGTGAGTGAT	0.592000								DNA polymerases (catalytic subunits)					5	48					0	0	0.000602	0	0
TDRD5	163589	broad.mit.edu	37	1	179632483	179632483	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179632483G>A	ENST00000444136.1	+	16	2756	c.2505_splice	c.e16-1	p.D836_splice	TDRD5_ENST00000294848.8_Splice_Site_p.D782_splice|TDRD5_ENST00000367614.1_Splice_Site_p.D782_splice	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	819					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCATTATAGGACTGGTGTTT	0.383000													9	29					0	0	0.006214	0	0
HEATR5A	25938	broad.mit.edu	37	14	31814460	31814460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:31814460G>A	ENST00000543095.2	-	20	3075	c.2891C>T	c.(2890-2892)tCa>tTa	p.S964L	HEATR5A_ENST00000389961.3_Missense_Mutation_p.S958L|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S958L|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S964L|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S671L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	958							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATGATCAATGATAGAGAATG	0.333000													10	33					0	0	0.000673	0	0
MAST1	22983	broad.mit.edu	37	19	12962929	12962929	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12962929G>A	ENST00000251472.4	+	9	916	c.876_splice	c.e9-1	p.E293_splice	MAST1_ENST00000591495.1_Splice_Site_p.E289_splice	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	293					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTGCCTCAGGAATTCAACCC	0.652000													11	72					0	0	0.000673	0	0
RAD17	5884	broad.mit.edu	37	5	68684932	68684932	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:68684932C>T	ENST00000509734.1	+	11	1677	c.999C>T	c.(997-999)atC>atT	p.I333I	RAD17_ENST00000345306.6_Silent_p.I322I|RAD17_ENST00000305138.4_Silent_p.I322I|RAD17_ENST00000358030.2_Silent_p.I157I|RAD17_ENST00000282891.6_Silent_p.I236I|RAD17_ENST00000380774.3_Silent_p.I333I|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Silent_p.I322I|RAD17_ENST00000354868.5_Silent_p.I322I|RAD17_ENST00000521422.1_Silent_p.I157I|RAD17_ENST00000361732.2_Silent_p.I322I			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	333					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CTGGTGATATCAGAAGTGCAA	0.338000								Other conserved DNA damage response genes					15	15					0	0	0.004990	0	0
ROR2	4920	broad.mit.edu	37	9	94486623	94486623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:94486623G>A	ENST00000375708.3	-	9	2351	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P578L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	718	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCCAGGCGGGACAGTCATC	0.647000													33	13					0	0	0.002445	0	0
TMEM74	157753	broad.mit.edu	37	8	109796904	109796904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:109796904C>T	ENST00000297459.3	-	2	602	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	142					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTTGGATTTTCCCAGCCAAGC	0.473000													25	86					0	0	0.004656	0	0
TRBV27	28560	broad.mit.edu	37	7	142423572	142423572	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142423572G>A	ENST00000506718.1	+	0	580				TRBV27_ENST00000390399.3_RNA																							CGACTGATAAGGGAGATGTTC	0.483000													30	12					0	0	0.001786	0	0
RNF182	221687	broad.mit.edu	37	6	13978059	13978059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:13978059C>T	ENST00000488300.1	+	3	1232	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	RNF182_ENST00000544682.1_Missense_Mutation_p.H237Y|RNF182_ENST00000537663.1_Missense_Mutation_p.H237Y|RNF182_ENST00000537388.1_Missense_Mutation_p.H237Y	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	237						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTGTTTGTCATGAATTTCT	0.413000													69	15					0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53025793	53025793	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:53025793T>A	ENST00000276480.7	-	26	3792	c.3109A>T	c.(3109-3111)Agt>Tgt	p.S1037C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTTTGATACTTTCCAGTAGA	0.448000													9	37					0	0	0.000673	0	0
STYX	6815	broad.mit.edu	37	14	53223323	53223323	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:53223323C>T	ENST00000354586.4	+	5	590	c.297C>T	c.(295-297)ttC>ttT	p.F99F	STYX_ENST00000442123.2_Silent_p.F99F|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	99	Tyrosine-protein phosphatase.				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TACGTTTTTTCCCTATGGTAG	0.234000													19	25					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9065080	9065080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9065080C>T	ENST00000397910.4	-	3	22569	c.22366G>A	c.(22366-22368)Gtt>Att	p.V7456I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7458	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTATTTCAACTGAGGTGCTG	0.478000													47	26					0	0	0.003610	0	0
HBD	3045	broad.mit.edu	37	11	5255402	5255402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5255402G>A	ENST00000380299.3	-	2	348	c.134C>T	c.(133-135)tCc>tTc	p.S45F	HBD_ENST00000292901.3_Missense_Mutation_p.S45F	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	45					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCCCAAAGGACTCAAAGAA	0.527000													16	22					0	0	0.004990	0	0
AGFG2	3268	broad.mit.edu	37	7	100153312	100153312	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100153312C>T	ENST00000300176.4	+	6	953	c.831C>T	c.(829-831)ctC>ctT	p.L277L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	277					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGAAGCCTCCCTCCAGCTG	0.537000													96	51					0	0	0.003610	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713945	142713945	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:142713945G>A	ENST00000369381.2	-	0	660																											GATTACCTCCGAAGTTAAAGA	0.313000													7	4					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179398792C>T	ENST00000589042.1	-	358	102774	c.102550G>A	c.(102550-102552)Gaa>Aaa	p.E34184K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25311K|TTN_ENST00000460472.2_Missense_Mutation_p.E25119K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32543K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31616K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25244K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32543	Ser-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403000													30	29					0	0	0.001786	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253616	134253616	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:134253616G>A	ENST00000524765.1	-	3	5123	c.579C>T	c.(577-579)ttC>ttT	p.F193F	B3GAT1_ENST00000392580.1_Silent_p.F193F|B3GAT1_ENST00000537389.1_Silent_p.F206F|B3GAT1_ENST00000312527.4_Silent_p.F193F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	193					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCGTCGGCGAAGTAGACCA	0.692000													4	5					0	0	0.000602	0	0
ARSF	416	broad.mit.edu	37	X	3002412	3002412	+	Missense_Mutation	SNP	C	C	T	rs146302062	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3002412C>T	ENST00000381127.1	+	6	756	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	ARSF_ENST00000537104.1_Missense_Mutation_p.R179C|ARSF_ENST00000359361.2_Missense_Mutation_p.R179C	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	179						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACCCCTCTCGTAACACGGA	0.537000													14	56					0	0	0.001855	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687779	27687779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27687779G>A	ENST00000438700.3	-	4	1865	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	583					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAACTTATTGGATGGATATC	0.378000													12	9					0	0	0.000978	0	0
GBA3	57733	broad.mit.edu	37	4	22820495	22820495	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:22820495C>T	ENST00000503442.1	+	0	529				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACACATCGGCCAAGGAATAAG	0.488000													10	12					0	0	0.000673	0	0
CACNA1S	779	broad.mit.edu	37	1	201043645	201043645	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:201043645C>T	ENST00000362061.3	-	14	2278	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CACNA1S_ENST00000367338.3_Silent_p.R684R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	684					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGACATCTTCCTGCGTTTTT	0.582000													7	9					0	0	0.004482	0	0
NPSR1	387129	broad.mit.edu	37	7	34698054	34698054	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:34698054C>T	ENST00000360581.1	+	1	158	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NPSR1_ENST00000465305.1_Silent_p.F10F|NPSR1_ENST00000381542.1_Silent_p.F10F|NPSR1_ENST00000381539.3_Silent_p.F10F|NPSR1_ENST00000381553.3_Silent_p.F10F|NPSR1_ENST00000531252.1_Silent_p.F10F|NPSR1_ENST00000359791.1_Silent_p.F10F|NPSR1-AS1_ENST00000419766.1_RNA|AC005493.1_ENST00000399077.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	10						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGGGCAGCTTCGATTCCAGTG	0.572000													44	13					0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28923508C>T	ENST00000257192.4	+	12	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	595					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGCAATTCATTCATGGGC	0.473000													36	12					0	0	0.002836	0	0
NUP210	23225	broad.mit.edu	37	3	13417926	13417926	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:13417926G>A	ENST00000254508.5	-	10	1240	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	386					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTTCAATTCGGATGTTCTGGA	0.542000													5	53					0	0	0.001168	0	0
PARP9	83666	broad.mit.edu	37	3	122271276	122271276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122271276G>A	ENST00000462315.1	-	5	1389	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	PARP9_ENST00000477522.2_Missense_Mutation_p.P366S|PARP9_ENST00000471785.1_Missense_Mutation_p.P366S|PARP9_ENST00000360356.2_Missense_Mutation_p.P401S|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	401	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGAGGTTTAGGAAATTCTGAA	0.318000													7	33					0	0	0.004482	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895374	42895374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42895374G>A	ENST00000399770.2	+	1	91	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	31					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTTCTGAAGGAAGTGTATGA	0.522000													15	41					0	0	0.003163	0	0
OR8U1	219417	broad.mit.edu	37	11	56143987	56143987	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56143987G>A	ENST00000302270.1	+	1	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AGAATAAGGAGGTGAAAGAAG	0.373000													17	40					0	0	0.006122	0	0
IFT80	57560	broad.mit.edu	37	3	160037581	160037581	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:160037581A>T	ENST00000326448.7	-	9	1356	c.924T>A	c.(922-924)ttT>ttA	p.F308L	IFT80_ENST00000483465.1_Missense_Mutation_p.F171L|IFT80_ENST00000496589.1_Missense_Mutation_p.F171L|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.F479L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	308						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATGTTACTTGAAAATTTTTCC	0.388000													10	32					0	0	0.006214	0	0
MLH1	4292	broad.mit.edu	37	3	37055956	37055956	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37055956C>T	ENST00000231790.2	+	9	927	c.711C>T	c.(709-711)acC>acT	p.T237T	MLH1_ENST00000435176.1_Silent_p.T139T|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	237			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGGATAAAACCCTAGCCTTCA	0.328000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	48					0	0	0.003163	0	0
CXorf66	347487	broad.mit.edu	37	X	139038338	139038338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:139038338G>A	ENST00000370540.1	-	3	826	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	268						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTCTTGTAGGGTTGACAAGT	0.393000													46	38					0	0	0.002852	0	0
MBNL2	10150	broad.mit.edu	37	13	98009744	98009744	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:98009744C>T	ENST00000345429.6	+	6	1594	c.813C>T	c.(811-813)ccC>ccT	p.P271P	MBNL2_ENST00000376673.3_Silent_p.P271P|MBNL2_ENST00000445661.2_Silent_p.P116P|MBNL2_ENST00000343600.4_Silent_p.P271P|MBNL2_ENST00000397601.1_Silent_p.P271P	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	271					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AGGCCTTTCCCCCTGGTGCTC	0.428000													17	12					0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11778373	11778373	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11778373G>A	ENST00000262442.3	+	53	10418	c.10350G>A	c.(10348-10350)gtG>gtA	p.V3450V	DNAH9_ENST00000454412.2_Silent_p.V3450V|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3450	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATGTCCGTGGAGAATGCCA	0.552000													26	25					0	0	0.003954	0	0
LRP2	4036	broad.mit.edu	37	2	170063573	170063573	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170063573G>A	ENST00000263816.3	-	39	6942	c.6657C>T	c.(6655-6657)ttC>ttT	p.F2219F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2219					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TACAGTCAAGGAAAGAACGCT	0.493000													33	69					0	0	0.003755	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483032	158483032	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:158483032C>T	ENST00000355585.4	+	8	1038	c.963C>T	c.(961-963)ctC>ctT	p.L321L	SYNJ2_ENST00000367121.3_Silent_p.L321L|SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.L321L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	321	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAAGCTGCTCTGGGCTTCTT	0.577000													155	36					0	0	0.003610	0	0
MROH2B	133558	broad.mit.edu	37	5	41054920	41054920	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41054920G>A	ENST00000399564.4	-	11	1506	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTATTGAAATGATGTGATCCC	0.373000													40	28					0	0	0.001951	0	0
DTNB	1838	broad.mit.edu	37	2	25611084	25611084	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:25611084C>T	ENST00000406818.3	-	17	1971	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	DTNB_ENST00000545439.1_Silent_p.E363E|DTNB_ENST00000288642.8_Silent_p.E574E|DTNB_ENST00000407186.1_Silent_p.E537E|DTNB_ENST00000407038.3_Silent_p.E544E|DTNB_ENST00000407661.3_Silent_p.E574E|DTNB_ENST00000404103.3_Silent_p.E574E|DTNB_ENST00000405222.1_Silent_p.E537E|DTNB_ENST00000496972.2_Silent_p.E510E	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	574						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCGAAGGCCTCCTGCACGT	0.612000													7	5					0	0	0.003080	0	0
AXDND1	126859	broad.mit.edu	37	1	179414189	179414189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:179414189G>A	ENST00000367618.3	+	16	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E550K	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	550										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACATTTACAGGAAAACTGGGC	0.378000													26	31					0	0	0.007291	0	0
SDPR	8436	broad.mit.edu	37	2	192700988	192700988	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:192700988G>A	ENST00000304141.4	-	2	1268	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	313						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTCTGACTTGGTCTCATTTT	0.532000													58	76					0	0	0.003610	0	0
SCFD2	152579	broad.mit.edu	37	4	53773705	53773705	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:53773705C>T	ENST00000401642.3	-	7	1894	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	SCFD2_ENST00000388940.4_Intron	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	587					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATCTGGCCTCTCGGGATGAA	0.403000													16	29					0	0	0.004007	0	0
KLRC3	3823	broad.mit.edu	37	12	10569303	10569303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:10569303G>A	ENST00000396439.2	-	5	594	c.550C>T	c.(550-552)Cca>Tca	p.P184S	NKG2-E_ENST00000539033.1_Missense_Mutation_p.P184S|KLRC3_ENST00000381903.2_Missense_Mutation_p.P184S|KLRC3_ENST00000381904.2_Missense_Mutation_p.P184S	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTCACCCATGGATGATGACTG	0.299000													22	1					0	0	0.007291	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228530	112228530	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:112228530G>A	ENST00000391338.1	+	1	1218	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						AAAGAAATGGGGAATCCGAGA	0.502000													4	13					0	0	0.001168	0	0
RGS22	26166	broad.mit.edu	37	8	100990159	100990159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:100990159C>T	ENST00000360863.6	-	23	3699	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	RGS22_ENST00000523287.1_Missense_Mutation_p.E988K|RGS22_ENST00000523437.1_Missense_Mutation_p.E1157K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1169					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCAGATTTTTCGTCTTCTAGG	0.299000													14	26					0	0	0.004990	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23927132G>A	ENST00000402377.3	-	4	1361	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S338L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S338L(1)|p.S407L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398000													11	20					0	0	0.000673	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218946	42218946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:42218946G>A	ENST00000221992.6	+	3	595	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CEACAM5_ENST00000405816.1_Missense_Mutation_p.D161N|CEACAM5_ENST00000398599.4_Missense_Mutation_p.D161N|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	161	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGAGGACAAGGATGCTGTGGC	0.572000													23	86					0	0	0.003954	0	0
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:59271541G>A	ENST00000320743.3	-	15	2463	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	LRIG3_ENST00000379141.4_Missense_Mutation_p.P666L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	726	Ig-like C2-type 3.					integral to membrane		p.P726R(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488000			T	ROS1	NSCLC								42	9					0	0	0.001951	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206597	142206597	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142206597G>A	ENST00000426318.2	-	0	308																											TCTTGGATCTGGAGACAACAT	0.517000													67	44					0	0	0.003610	0	0
ZNF662	389114	broad.mit.edu	37	3	42956688	42956688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42956688C>T	ENST00000541208.1	+	5	1492	c.1123C>T	c.(1123-1125)Ctt>Ttt	p.L375F	ZNF662_ENST00000440367.2_Missense_Mutation_p.L375F|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.L401F|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGGCACATCTTATTCGACA	0.448000													8	38					0	0	0.003080	0	0
C4orf21	55345	broad.mit.edu	37	4	113468529	113468529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:113468529G>A	ENST00000505019.1	-	24	5635	c.5510C>T	c.(5509-5511)cCc>cTc	p.P1837L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGCTGTTTGGGATCCCCAAC	0.358000													5	29					0	0	0.000602	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962655	73962655	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73962655G>A	ENST00000373468.1	-	3	2388	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	KIAA2022_ENST00000055682.5_Silent_p.A579A			Q5QGS0	K2022_HUMAN	KIAA2022	579					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGCCAGCTTGGCATATTTGT	0.448000													9	19					0	0	0.004482	0	0
FAM179A	165186	broad.mit.edu	37	2	29247148	29247148	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29247148C>T	ENST00000379558.4	+	13	2112	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	FAM179A_ENST00000403861.2_Silent_p.F532F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	587							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAACGAGTTCATCCAGAGAG	0.602000													8	8					0	0	0.006214	0	0
ZAK	51776	broad.mit.edu	37	2	174074498	174074498	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:174074498C>T	ENST00000338983.3	+	10	981	c.786C>T	c.(784-786)tcC>tcT	p.S262S	MLTK_ENST00000539448.1_Silent_p.S262S|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Silent_p.S262S|MLTK_ENST00000375213.3_Silent_p.S262S|MLTK_ENST00000431503.2_Silent_p.S161S	NM_133646.2	NP_598407.1																					TCCTGGAGTCCATGTCAAATG	0.468000													16	27					0	0	0.003163	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037238	129037238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:129037238G>A	ENST00000274487.4	+	20	3239	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1032	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGCGCTGTGAGGGCCAGGA	0.582000													29	24					0	0	0.002836	0	0
ZNF135	7694	broad.mit.edu	37	19	58578433	58578433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:58578433G>A	ENST00000506786.1	+	5	1009	c.455G>A	c.(454-456)gGa>gAa	p.G152E	ZNF135_ENST00000313434.5_Missense_Mutation_p.G194E|ZNF135_ENST00000401053.4_Missense_Mutation_p.G218E|ZNF135_ENST00000511556.1_Missense_Mutation_p.G206E|ZNF135_ENST00000439855.2_Missense_Mutation_p.G194E|ZNF135_ENST00000359978.6_Missense_Mutation_p.G206E			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	206					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAACACGTGGAAAAAGGGAG	0.458000													8	34					0	0	0.003080	0	0
CNTN5	53942	broad.mit.edu	37	11	99786865	99786865	+	Silent	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:99786865T>G	ENST00000524871.1	+	7	947	c.657T>G	c.(655-657)ccT>ccG	p.P219P	CNTN5_ENST00000527185.1_Silent_p.P219P|CNTN5_ENST00000528682.1_Silent_p.P219P|CNTN5_ENST00000279463.3_Silent_p.P219P|CNTN5_ENST00000418526.2_Silent_p.P145P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	219	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGTGCTCTCCTCCGCCACATT	0.453000													3	3					0	0	0.004672	0	0
RP1L1	94137	broad.mit.edu	37	8	10470224	10470224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:10470224G>A	ENST00000382483.3	-	4	1607	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	462					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCCCTCGGGGAGGCCGGTG	0.721000													17	55					0	0	0.001216	0	0
SMYD1	150572	broad.mit.edu	37	2	88383879	88383879	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:88383879A>G	ENST00000419482.2	+	2	267	c.182A>G	c.(181-183)aAg>aGg	p.K61R	SMYD1_ENST00000438570.1_Missense_Mutation_p.K61R|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.K61R	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGCAGGAGAAGCTCCATCGC	0.522000													34	34					0	0	0.004878	0	0
MPZ	4359	broad.mit.edu	37	1	161277067	161277067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:161277067C>T	ENST00000533357.1	-	2	281	c.215G>A	c.(214-216)gGg>gAg	p.G72E	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.G72E|MPZ_ENST00000360451.6_Missense_Mutation_p.G82E	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	72	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTCTGCCCCCTTCGGGCTG	0.552000													5	22					0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54435820	54435820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:54435820C>T	ENST00000545554.1	+	3	3010	c.3010C>T	c.(3010-3012)Cga>Tga	p.R1004*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1004*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1004*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1004					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTAAGGCTCGAATAGTAAG	0.388000													14	13					0	0	0.004007	0	0
DNAJB12	54788	broad.mit.edu	37	10	74096350	74096350	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:74096350A>T	ENST00000338820.3	-	7	1189	c.1040T>A	c.(1039-1041)gTc>gAc	p.V347D	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000444643.2_Missense_Mutation_p.V313D|DNAJB12_ENST00000394903.2_Missense_Mutation_p.V347D	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	313					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ATTCCGCTCGACTGTTTTGAG	0.552000													12	107					0	0	0.002450	0	0
CDH4	1002	broad.mit.edu	37	20	60509225	60509225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:60509225C>T	ENST00000360469.5	+	15	2579	c.2491C>T	c.(2491-2493)Ccg>Tcg	p.P831S	CDH4_ENST00000543233.1_Missense_Mutation_p.P757S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	831					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCAGTACCCGATCAGGCC	0.677000													36	54					0	0	0.004289	0	0
LRRC27	80313	broad.mit.edu	37	10	134175022	134175022	+	Missense_Mutation	SNP	C	C	T	rs139048900		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:134175022C>T	ENST00000368610.3	+	8	1046	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	LRRC27_ENST00000368612.1_Missense_Mutation_p.P349L|LRRC27_ENST00000368613.4_Missense_Mutation_p.P411L|LRRC27_ENST00000368614.3_Missense_Mutation_p.P411L|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000432555.2_Missense_Mutation_p.P284L			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	411										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACTGAATCCGCCTGGAAAA	0.453000													40	32					0	0	0.007835	0	0
C9	735	broad.mit.edu	37	5	39315978	39315978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:39315978C>T	ENST00000263408.4	-	6	864	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	257	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAGGCTGTTTCCTCACAACAT	0.313000													20	46					0	0	0.002299	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364151	4364151	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4364151G>A	ENST00000269886.3	-	5	577	c.399C>T	c.(397-399)atC>atT	p.I133I	SH3GL1_ENST00000417295.2_Silent_p.I85I|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	133	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCTTGACCTCGATGTCCAGGG	0.602000			T	MLL	AL								39	30					0	0	0.005524	0	0
CSMD2	114784	broad.mit.edu	37	1	34080130	34080130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:34080130C>T	ENST00000373381.4	-	40	6283	c.6107G>A	c.(6106-6108)tGg>tAg	p.W2036*	CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*|CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTATTTTCCAGGAGCAGTC	0.567000													7	15					0	0	0.004482	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	32					0	0	0.004672	0	0
COL9A1	1297	broad.mit.edu	37	6	70944604	70944604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:70944604C>T	ENST00000357250.6	-	34	2310	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G475R|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.G475R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	718	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCCGACTTCCCTCAGGCCCT	0.592000													23	4					0	0	0.002780	0	0
PRB2	653247	broad.mit.edu	37	12	11546785	11546785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:11546785C>T	ENST00000389362.4	-	3	262	c.227G>A	c.(226-228)gGa>gAa	p.G76E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.607000													56	95					0	0	0.003610	0	0
ROCK1	6093	broad.mit.edu	37	18	18629177	18629177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:18629177G>A	ENST00000399799.1	-	4	1230	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	97	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTCCTGGTGGATTTATGCCT	0.328000													39	14					0	0	0.002522	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003979	27003979	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:27003979G>A	ENST00000215939.2	-	4	436	c.306C>T	c.(304-306)gtC>gtT	p.V102V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	102	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCTCAAAGGCGACCCAGCTGG	0.572000													12	52					0	0	0.002450	0	0
OR2D3	120775	broad.mit.edu	37	11	6942899	6942899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:6942899C>T	ENST00000317834.3	+	1	695	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTGGTAATCCTCCTGGCCCC	0.473000													6	8					0	0	0.001168	0	0
ABCA3	21	broad.mit.edu	37	16	2369609	2369609	+	Silent	SNP	G	G	A	rs149038393		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:2369609G>A	ENST00000301732.5	-	8	1546	c.846C>T	c.(844-846)gtC>gtT	p.V282V	ABCA3_ENST00000382381.3_Silent_p.V282V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	282					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V282V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCCTGCACGACAGCACGGG	0.617000													30	45					0	0	0.001786	0	0
LILRB2	10288	broad.mit.edu	37	19	54783395	54783395	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54783395G>A	ENST00000391748.1	-	5	590	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	LILRB2_ENST00000391749.4_Silent_p.L155L|LILRB2_ENST00000314446.5_Silent_p.L155L|LILRB2_ENST00000434421.1_Silent_p.L39L|LILRB2_ENST00000391746.1_Silent_p.L155L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	155	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTTACACAGAATGAAGCCG	0.622000													13	68					0	0	0.001855	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684294	75684294	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:75684294G>A	ENST00000370855.5	-	17	1523	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	SLC44A5_ENST00000535611.1_Silent_p.F340F|SLC44A5_ENST00000370859.3_Silent_p.F470F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	470						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGCAATGACGAAGTTTATAA	0.418000													14	35					0	0	0.004007	0	0
GNAI2	2771	broad.mit.edu	37	3	50293705	50293705	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:50293705C>T	ENST00000313601.6	+	5	930	c.546C>T	c.(544-546)acC>acT	p.T182T	GNAI2_ENST00000440628.1_Silent_p.T130T|GNAI2_ENST00000422163.1_Silent_p.T166T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.T101T|GNAI2_ENST00000451956.1_Silent_p.T145T|GNAI2_ENST00000266027.5_Silent_p.T166T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	182					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCGTAAAGACCACGGGGATCG	0.592000													27	18					0	0	0.007291	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919975	51919975	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51919975C>T	ENST00000353836.5	-	3	872	c.651G>A	c.(649-651)gtG>gtA	p.V217V	SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.V217V|SIGLEC10_ENST00000525998.1_Silent_p.V217V|SIGLEC10_ENST00000442846.3_Silent_p.V159V|SIGLEC10_ENST00000441969.3_Silent_p.V159V|SIGLEC10_ENST00000436984.2_Silent_p.V169V|SIGLEC10_ENST00000439889.2_Silent_p.V159V|SIGLEC10_ENST00000339313.5_Silent_p.V217V	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	217	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGAGAAGTCCACATGGCAGG	0.632000													20	22					0	0	0.001882	0	0
TIMM50	92609	broad.mit.edu	37	19	39971592	39971592	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:39971592C>T	ENST00000314349.4	+	1	541	c.408C>T	c.(406-408)gcC>gcT	p.A136A	TIMM50_ENST00000599794.1_Silent_p.A33A|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Silent_p.A33A	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	33					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGCCGGGCCCCAGATCAGG	0.706000													9	6					0	0	0.006214	0	0
NANOS3	342977	broad.mit.edu	37	19	13988108	13988108	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:13988108C>T	ENST00000397555.2	+	1	46	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	NANOS3_ENST00000339133.5_Silent_p.L16L|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	16					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TTTGGCACACCTGGTTAGGGC	0.602000													146	98					0	0	0.003610	0	0
PRSS36	146547	broad.mit.edu	37	16	31151832	31151832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:31151832C>T	ENST00000268281.4	-	13	2206	c.2148G>A	c.(2146-2148)tgG>tgA	p.W716*	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Nonsense_Mutation_p.W711*	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	716	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGGTTCTTTCCAGCCCAACA	0.667000													12	33					0	0	0.000978	0	0
MROH2B	133558	broad.mit.edu	37	5	41061705	41061705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41061705C>T	ENST00000399564.4	-	6	1032	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCCACTTCTCCATTATATACC	0.483000													48	93					0	0	0.003610	0	0
EPHA5	2044	broad.mit.edu	37	4	66361136	66361136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:66361136C>T	ENST00000273854.3	-	4	1636	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	EPHA5_ENST00000354839.4_Missense_Mutation_p.E346K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E346K|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	346	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGATCAGACTCTCTCCTGAAA	0.468000										TSP Lung(17;0.13)			23	71					0	0	0.003954	0	0
FRAS1	80144	broad.mit.edu	37	4	79369291	79369291	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79369291A>T	ENST00000264895.6	+	44	6535	c.6095A>T	c.(6094-6096)gAt>gTt	p.D2032V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2031					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCTACCAGGATATCCTAGCT	0.547000													8	9					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802974	185802974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:185802974C>T	ENST00000302277.6	+	4	3445	c.2851C>T	c.(2851-2853)Cct>Tct	p.P951S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	951						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGCAAATTCCTTTTCAGGT	0.388000													30	36					0	0	0.001512	0	0
SEMA4B	10509	broad.mit.edu	37	15	90766867	90766867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:90766867C>T	ENST00000411539.2	+	8	1198	c.938C>T	c.(937-939)cCc>cTc	p.P313L	SEMA4B_ENST00000332496.6_Missense_Mutation_p.P313L|SEMA4B_ENST00000379122.3_Missense_Mutation_p.P308L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGCTCACGGCCCGACGATGGC	0.637000													8	24					0	0	0.003080	0	0
OR1A1	8383	broad.mit.edu	37	17	3119596	3119596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:3119596C>T	ENST00000304094.1	+	1	682	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCCAGGTTCCTTCCACCAA	0.493000													59	21					0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	31341755	31341755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:31341755C>T	ENST00000357033.4	-	62	9390	c.9184G>A	c.(9184-9186)Gag>Aag	p.E3062K	DMD_ENST00000474231.1_Missense_Mutation_p.E602K|DMD_ENST00000343523.2_Missense_Mutation_p.E602K|DMD_ENST00000378707.3_Missense_Mutation_p.E602K|DMD_ENST00000378677.2_Missense_Mutation_p.E3058K|DMD_ENST00000541735.1_Missense_Mutation_p.E602K|DMD_ENST00000359836.1_Missense_Mutation_p.E602K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3062	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGGCTCTCTCCCAGGGACCC	0.408000													4	17					0	0	0.000602	0	0
TMC7	79905	broad.mit.edu	37	16	19032952	19032952	+	Splice_Site	SNP	G	G	A	rs145788880		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:19032952G>A	ENST00000421369.3	+	4	690	c.130_splice	c.e4-1	p.G44_splice	TMC7_ENST00000569532.1_Splice_Site_p.G154_splice|TMC7_ENST00000304381.5_Splice_Site_p.G154_splice	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	154						integral to membrane		p.G154G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTTTCCAGGGAAATTTGGCA	0.418000													41	31					0	0	0.003610	0	0
OR1I1	126370	broad.mit.edu	37	19	15198767	15198767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15198767G>A	ENST00000209540.2	+	1	977	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ACAAGGATATGAAGGCAGCCC	0.547000													21	20					0	0	0.002299	0	0
NSD1	64324	broad.mit.edu	37	5	176719086	176719086	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:176719086C>T	ENST00000439151.2	+	22	6435	c.6390C>T	c.(6388-6390)ctC>ctT	p.L2130L	NSD1_ENST00000361032.4_Silent_p.L2027L|NSD1_ENST00000354179.4_Silent_p.L1861L|NSD1_ENST00000347982.4_Silent_p.L1861L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2130					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGGCCAGCTCGTCTCCTGCA	0.507000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	6					0	0	0.004482	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:23398358C>T	ENST00000379361.4	+	2	1862	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	334	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAGTCCCTTTCGTCATGCTAG	0.483000													23	57					0	0	0.003330	0	0
FYCO1	79443	broad.mit.edu	37	3	46014622	46014622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:46014622G>A	ENST00000296137.2	-	6	702	c.497C>T	c.(496-498)tCg>tTg	p.S166L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S166L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	166	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAAGCCCCTCGACGCCAGGTC	0.483000													30	29					0	0	0.002096	0	0
IL20RB	53833	broad.mit.edu	37	3	136710872	136710872	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:136710872C>T	ENST00000329582.4	+	5	873	c.624C>T	c.(622-624)ttC>ttT	p.F208F	IL20RB_ENST00000309741.5_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	208	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCCAGACATTCGTGAAGGCCA	0.542000													16	64					0	0	0.004007	0	0
DCLK3	85443	broad.mit.edu	37	3	36779465	36779465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:36779465G>A	ENST00000416516.2	-	2	1176	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	229						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGATCCTCTGGGCCTCTGTC	0.572000													32	79					0	0	0.002445	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852763	47852763	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:47852763G>A	ENST00000289672.2	-	49	7352	c.7302C>T	c.(7300-7302)ggC>ggT	p.G2434G	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2434					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGTCCCACAGCCCCCAGGAC	0.582000													60	101					0	0	0.003610	0	0
PSMB11	122706	broad.mit.edu	37	14	23512017	23512017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:23512017G>A	ENST00000408907.2	+	1	642	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CTATCGCTACGACATGAGCAC	0.627000													19	34					0	0	0.007413	0	0
ANKK1	255239	broad.mit.edu	37	11	113268025	113268025	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113268025G>A	ENST00000303941.3	+	6	1012	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	306							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCCTGGCCAGGAAGGTGTCCT	0.597000													6	11					0	0	0.001984	0	0
DGCR2	9993	broad.mit.edu	37	22	19036104	19036104	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:19036104G>A	ENST00000263196.7	-	7	1102	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.F244F	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	285	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCTTAGGGGTGAAGTAGAACC	0.532000													228	135					0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	106918722	106918722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:106918722G>A	ENST00000369701.3	+	11	1929	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	568						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTAGCAAGGAGACAGCCCC	0.418000													9	15					0	0	0.006214	0	0
ASXL3	80816	broad.mit.edu	37	18	31326326	31326326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:31326326G>A	ENST00000269197.5	+	12	6514	c.6514G>A	c.(6514-6516)Gaa>Aaa	p.E2172K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTGCAATTGAAAAGTCCAT	0.483000													46	24					0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177911152	177911152	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:177911152G>A	ENST00000308284.6	-	16	1994	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	635					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCAGACGGGAAGCATAAA	0.493000													10	22					0	0	0.006214	0	0
FBXO39	162517	broad.mit.edu	37	17	6683216	6683216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:6683216C>T	ENST00000321535.4	+	2	159	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	10			P -> S (in dbSNP:rs4796555).							NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGATCCAGCCCCAAGACCAG	0.537000													20	5					0	0	0.001882	0	0
SLK	9748	broad.mit.edu	37	10	105727584	105727584	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:105727584C>G	ENST00000369755.3	+	1	626	c.81C>G	c.(79-81)gaC>gaG	p.D27E	SLK_ENST00000335753.4_Missense_Mutation_p.D27E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	27					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAAGAGGGACCTGAACCCCG	0.483000													17	57					0	0	0.006122	0	0
C19orf44	84167	broad.mit.edu	37	19	16614027	16614027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:16614027C>T	ENST00000221671.3	+	3	1067	c.911C>T	c.(910-912)tCc>tTc	p.S304F	C19orf44_ENST00000594035.1_Missense_Mutation_p.S304F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	304										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGTCACGTTTCCAGTGACACC	0.552000													14	59					0	0	0.002450	0	0
MED12	9968	broad.mit.edu	37	X	70350002	70350002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:70350002C>T	ENST00000333646.6	+	28	4184	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	MED12_ENST00000374102.1_Nonsense_Mutation_p.R1329*|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Nonsense_Mutation_p.R1329*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1329					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTATCCACATCGACTGCTGGA	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	9					0	0	0.000248	0	0
CLCN6	1185	broad.mit.edu	37	1	11898651	11898651	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:11898651C>T	ENST00000346436.6	+	22	2515	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	CLCN6_ENST00000376496.3_Silent_p.S821S|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.S799S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	821	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACGTCTCCCAAGTCTTCA	0.612000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	41					0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11022918	11022918	+	Missense_Mutation	SNP	C	C	T	rs150013185		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:11022918C>T	ENST00000304623.8	-	17	3151	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.E651K|CTNND2_ENST00000511377.1_Missense_Mutation_p.E897K|CTNND2_ENST00000359640.2_Missense_Mutation_p.E930K|CTNND2_ENST00000458100.2_Missense_Mutation_p.E555K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	988					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCAACTTCTCGATGCCACCG	0.493000													43	30					0	0	0.003610	0	0
ALMS1	7840	broad.mit.edu	37	2	73677116	73677116	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:73677116C>T	ENST00000264448.6	+	8	3570	c.3459C>T	c.(3457-3459)ttC>ttT	p.F1153F	ALMS1_ENST00000409009.1_Silent_p.F1111F|ALMS1_ENST00000377715.1_Silent_p.F1153F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1153	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAGCATTTTCCACCAGCAGG	0.468000													49	65					0	0	0.003610	0	0
HMBOX1	79618	broad.mit.edu	37	8	28876303	28876303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:28876303C>T	ENST00000397358.3	+	7	1428	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	HMBOX1_ENST00000444075.1_Missense_Mutation_p.P242S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P242S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P242S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P242S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P242S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P242S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P242S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P242S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	242					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGACCAGCCCCCATTCCAAT	0.453000													6	36					0	0	0.001168	0	0
LAMP3	27074	broad.mit.edu	37	3	182871618	182871618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:182871618G>A	ENST00000265598.3	-	2	866	c.611C>T	c.(610-612)aCa>aTa	p.T204I	LAMP3_ENST00000466939.1_Missense_Mutation_p.T180I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	204	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTGCAGCTGTGCGGGTGGT	0.552000													82	51					0	0	0.003610	0	0
HLA-V	352962	broad.mit.edu	37	6	29760077	29760077	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:29760077G>A	ENST00000457107.1	+	0	78																											ACCCAGACCTGGGCAGGTGAG	0.706000													4	2					0	0	0.000602	0	0
VILL	50853	broad.mit.edu	37	3	38048182	38048182	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38048182C>T	ENST00000283713.6	+	19	2714	c.2448C>T	c.(2446-2448)gcC>gcT	p.A816A	VILL_ENST00000465644.1_Silent_p.A534A|VILL_ENST00000383759.2_Silent_p.A816A			O15195	VILL_HUMAN	villin-like	816	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACCCTGCCCGCAGGGAGG	0.677000													24	17					0	0	0.006320	0	0
PREX2	80243	broad.mit.edu	37	8	68992747	68992747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:68992747G>A	ENST00000288368.4	+	16	1989	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	571					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAATGGAGGGATCAAATATG	0.308000													9	36					0	0	0.000673	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982226	61982226	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61982226G>A	ENST00000370263.4	-	5	758	c.537C>T	c.(535-537)ttC>ttT	p.F179F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	179					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCAGGAGCCGAATTTCATGG	0.602000													28	119					0	0	0.001512	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439912	150439912	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:150439912C>T	ENST00000358647.3	+	3	1052	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGCCCAGCTGCTCCAAAG	0.597000													10	51					0	0	0.000673	0	0
C6orf203	51250	broad.mit.edu	37	6	107361206	107361206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:107361206C>T	ENST00000443043.1	+	3	932	c.257C>T	c.(256-258)tCc>tTc	p.S86F	C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000405204.2_Missense_Mutation_p.S81F|C6orf203_ENST00000311381.5_Missense_Mutation_p.S81F	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	81										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTTCCTTTTTCCGTAAGACTC	0.338000													80	14					0	0	0.003610	0	0
TMX3	54495	broad.mit.edu	37	18	66364482	66364482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:66364482G>A	ENST00000299608.2	-	8	867	c.551C>T	c.(550-552)tCa>tTa	p.S184L	TMX3_ENST00000443099.2_Missense_Mutation_p.S157L|TMX3_ENST00000562706.1_Missense_Mutation_p.S184L	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	184					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CACTTCTTCTGAGGCAGAAAA	0.244000													16	3					0	0	0.001216	0	0
RAB5C	5878	broad.mit.edu	37	17	40282432	40282432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:40282432G>A	ENST00000393860.3	-	3	405	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.S30F|RAB5C_ENST00000346213.4_Missense_Mutation_p.S30F|RAB5C_ENST00000547517.1_Missense_Mutation_p.S63F	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	30					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCCTACCGCAGACTCCCCCAG	0.592000													66	8					0	0	0.003610	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479045	55479045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55479045C>T	ENST00000342972.1	+	1	508	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	80	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GCCTTCAGTGCCCCGGAGCAA	0.567000													8	19					0	0	0.004482	0	0
NOS1	4842	broad.mit.edu	37	12	117718653	117718653	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:117718653G>A	ENST00000317775.6	-	8	2086	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.F467F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	467					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCTCTGGGGGAATATGGTGA	0.627000													17	5					0	0	0.004990	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521202	86521202	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:86521202C>T	ENST00000450689.2	-	21	3053	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	KIAA1324L_ENST00000416314.1_Silent_p.L789L|KIAA1324L_ENST00000444627.1_Silent_p.L885L|KIAA1324L_ENST00000297222.6_Silent_p.L716L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	956						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATTTGTATTCCAGTCTAAATA	0.303000													3	2					0	0	0.004672	0	0
OR9A2	135924	broad.mit.edu	37	7	142723785	142723785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142723785C>T	ENST00000350513.2	-	1	497	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCAAACACCCATGACACTA	0.433000													34	27					0	0	0.002836	0	0
REV3L	5980	broad.mit.edu	37	6	111689225	111689225	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:111689225A>C	ENST00000435970.1	-	16	6348	c.5532T>G	c.(5530-5532)atT>atG	p.I1844M	REV3L_ENST00000358835.3_Missense_Mutation_p.I1922M|REV3L_ENST00000368802.3_Missense_Mutation_p.I1922M|REV3L_ENST00000368805.1_Missense_Mutation_p.I1922M			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1922					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCGTCCACCAATCTCCCTAT	0.388000								DNA polymerases (catalytic subunits)					7	2					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179575440	179575440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179575440C>T	ENST00000589042.1	-	98	28608	c.28384G>A	c.(28384-28386)Gga>Aga	p.G9462R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9145R|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8218R|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9145	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAATCTCCTTTGTCTACT	0.443000													31	51					0	0	0.002836	0	0
C5orf42	65250	broad.mit.edu	37	5	37154076	37154076	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:37154076G>A	ENST00000274258.7	-	41	8258	c.4671C>T	c.(4669-4671)ttC>ttT	p.F1557F	C5orf42_ENST00000425232.2_Silent_p.F2659F|C5orf42_ENST00000508244.1_Silent_p.F2659F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2659										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTGAATCGGAACTCTGGTT	0.383000													31	31					0	0	0.002445	0	0
SPATA20	64847	broad.mit.edu	37	17	48626509	48626509	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:48626509G>T	ENST00000006658.6	+	6	742	c.622G>T	c.(622-624)Gtc>Ttc	p.V208F	SPATA20_ENST00000393244.3_Missense_Mutation_p.V148F|SPATA20_ENST00000356488.4_Missense_Mutation_p.V192F|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	192					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTTGACCCGAGTCGGCTTCCG	0.632000													90	14					1.59803e-59	2.05666e-59	0.003610	1	0
TP53BP2	7159	broad.mit.edu	37	1	223991102	223991102	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:223991102G>A	ENST00000391878.2	-	8	1083	c.315C>T	c.(313-315)ctC>ctT	p.L105L	TP53BP2_ENST00000343537.7_Silent_p.L234L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	228					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGCCAGGACGAGCTCCCTCT	0.448000													14	29					0	0	0.002450	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:73848969G>A	ENST00000523207.1	+	3	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	460					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCTTCGCTCGAAGTATGGAA	0.512000													25	69					0	0	0.003954	0	0
PTGS2	5743	broad.mit.edu	37	1	186648224	186648224	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186648224G>A	ENST00000367468.5	-	3	415	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	93					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CATTTCGAAGGAAGGGAATGT	0.338000													8	34					0	0	0.003080	0	0
OSBPL11	114885	broad.mit.edu	37	3	125271248	125271248	+	Silent	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:125271248G>T	ENST00000296220.5	-	9	1720	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	477					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCCCTGGGTGGAAGAACTGC	0.448000													5	26					3.59834e-05	4.57893e-05	0.001168	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821359	5821359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:5821359C>T	ENST00000381095.3	-	5	1987	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	NLGN4X_ENST00000538097.1_Missense_Mutation_p.V454M|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V454M|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V454M|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V474M	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	454					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCGGTGGCCACGGCGGGGGCC	0.597000													8	21					0	0	0.001368	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393932	233393932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233393932G>A	ENST00000258229.8	-	5	1910	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	559						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCAGATTTGGAAGTTGGCAT	0.438000													18	17					0	0	0.004990	0	0
AQP8	343	broad.mit.edu	37	16	25239795	25239795	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:25239795C>T	ENST00000219660.5	+	6	893	c.768C>T	c.(766-768)ctC>ctT	p.L256L	AQP8_ENST00000566125.1_Silent_p.L250L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	256					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		AGACCCGCCTCATCCTGAAGG	0.582000													47	32					0	0	0.003610	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149191	142149191	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142149191G>A	ENST00000390372.3	-	0	86																											CAGGTGTGTGGGACTTTGGGT	0.552000													30	25					0	0	0.004289	0	0
TENC1	23371	broad.mit.edu	37	12	53453362	53453362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:53453362C>T	ENST00000314250.6	+	18	2227	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	TENC1_ENST00000379902.3_Missense_Mutation_p.S522L|TENC1_ENST00000314276.3_Missense_Mutation_p.S656L|TENC1_ENST00000546602.1_Missense_Mutation_p.S646L|TENC1_ENST00000451358.1_Missense_Mutation_p.S646L|TENC1_ENST00000549700.1_Missense_Mutation_p.S646L|TENC1_ENST00000552570.1_Missense_Mutation_p.S646L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	646					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCTGCCGATCGCTGTCAGAG	0.662000													43	10					0	0	0.001951	0	0
PLVAP	83483	broad.mit.edu	37	19	17487999	17487999	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17487999G>A	ENST00000252590.4	-	1	160	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	33						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTGGATGAGGGAGACGAAGA	0.612000													17	54					0	0	0.004990	0	0
KIF1C	10749	broad.mit.edu	37	17	4926845	4926845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4926845C>T	ENST00000320785.5	+	23	3068	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	904					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAGGCAGCCCCCAGTGACCGC	0.657000													16	26					0	0	0.004990	0	0
TRAV35	28647	broad.mit.edu	37	14	22690118	22690118	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22690118C>T	ENST00000390462.1	+	0	77																											AATCAGAGTCCTCAATCTATG	0.428000													12	28					0	0	0.002450	0	0
ZNF791	163049	broad.mit.edu	37	19	12740041	12740041	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12740041C>T	ENST00000343325.4	+	4	1860	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Silent_p.S457S|ZNF791_ENST00000458122.3_Silent_p.S534S	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTCCACATCCTTAAAAAAAC	0.328000													60	32					0	0	0.003610	0	0
DDX60	55601	broad.mit.edu	37	4	169158566	169158566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:169158566G>A	ENST00000393743.3	-	32	4573	c.4282C>T	c.(4282-4284)Caa>Taa	p.Q1428*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1428							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTACCTTCTTGATCTAAATAG	0.299000													13	5					0	0	0.004007	0	0
FABP5	2171	broad.mit.edu	37	8	82195725	82195725	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:82195725C>T	ENST00000396359.1	+	2	572	c.102C>T	c.(100-102)acC>acT	p.T34T	FABP5_ENST00000297258.6_Silent_p.T68T			Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	68					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			TTTCTTGTACCCTGGGAGAGA	0.423000													14	8					0	0	0.002450	0	0
CDH18	1016	broad.mit.edu	37	5	19473502	19473502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:19473502G>A	ENST00000507958.1	-	15	3196	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q736*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q736*|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCATAAGTCTGAAGAGAGTCA	0.473000													22	31					0	0	0.002299	0	0
SLC51A	200931	broad.mit.edu	37	3	195955025	195955025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195955025G>A	ENST00000296327.5	+	5	611	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGCTGGTCATGGTGGAAGGCT	0.612000													45	189					0	0	0.003610	0	0
TRPS1	7227	broad.mit.edu	37	8	116616963	116616963	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:116616963C>T	ENST00000395715.3	-	4	1810	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	TRPS1_ENST00000519076.1_Silent_p.Q352Q|TRPS1_ENST00000519674.1_Silent_p.Q398Q|TRPS1_ENST00000520276.1_Silent_p.Q402Q|TRPS1_ENST00000220888.5_Silent_p.Q398Q	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	398					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTATCTTGTCCTGCCATTTTC	0.483000									Langer-Giedion syndrome				8	11					0	0	0.004482	0	0
SLPI	6590	broad.mit.edu	37	20	43882237	43882237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:43882237G>A	ENST00000338380.2	-	2	243	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	75	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTGTCAACAGGATCCAGGCAT	0.537000													18	32					0	0	0.001882	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	24					0	0	0.000248	0	0
ATP11C	286410	broad.mit.edu	37	X	138878601	138878601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:138878601G>A	ENST00000370557.1	-	12	2064	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ATP11C_ENST00000370543.1_Missense_Mutation_p.S349L|ATP11C_ENST00000361648.2_Missense_Mutation_p.S349L|ATP11C_ENST00000359686.2_Missense_Mutation_p.S349L|ATP11C_ENST00000327569.3_Missense_Mutation_p.S349L|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	349					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACCATAAATGATAGGAAGTC	0.333000													23	23					0	0	0.003330	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168438	4168438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4168438G>A	ENST00000078445.2	+	6	952	c.805G>A	c.(805-807)Gat>Aat	p.D269N	CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.D267N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.D268N|CREB3L3_ENST00000252587.3_Missense_Mutation_p.D209N	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	269					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAATATATCGATGGCCTGGA	0.537000													7	15					0	0	0.001984	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556325	53556325	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:53556325G>A	ENST00000371494.4	-	8	1312	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	395						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CGTAGTTGTTGACCTGGGCGA	0.642000													14	12					0	0	0.004007	0	0
NETO1	81832	broad.mit.edu	37	18	70532132	70532132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:70532132C>T	ENST00000327305.6	-	3	788	c.131G>A	c.(130-132)tGg>tAg	p.W44*	NETO1_ENST00000583169.1_Nonsense_Mutation_p.W44*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.W43*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.W43*|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	44	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTTTTGTCCAAGTTCCACA	0.408000													14	13					0	0	0.002450	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829185	67829185	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:67829185G>A	ENST00000433211.1	-	15	2214	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	CTNNA3_ENST00000373744.4_Silent_p.F680F|CTNNA3_ENST00000373735.1_Silent_p.F19F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	680					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTACTTTCTTGAAATCAGCAA	0.383000													23	45					0	0	0.004656	0	0
TPTE	7179	broad.mit.edu	37	21	10910393	10910393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:10910393C>T	ENST00000298232.7	-	21	1676	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D417N|TPTE_ENST00000361285.4_Missense_Mutation_p.D455N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	455	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAATGTTATCAAGTACCTAT	0.318000													9	31					0	0	0.006214	0	0
NUP155	9631	broad.mit.edu	37	5	37337949	37337949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:37337949G>A	ENST00000231498.3	-	12	1521	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	NUP155_ENST00000381843.2_Missense_Mutation_p.P381S|NUP155_ENST00000513532.1_Missense_Mutation_p.P440S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	440					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTGGAAAGGAAAAGTATCA	0.289000													32	39					0	0	0.004289	0	0
FSTL5	56884	broad.mit.edu	37	4	162459346	162459346	+	Silent	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:162459346A>T	ENST00000306100.5	-	10	1720	c.1284T>A	c.(1282-1284)ctT>ctA	p.L428L	FSTL5_ENST00000427802.2_Silent_p.L427L|FSTL5_ENST00000379164.4_Silent_p.L427L|FSTL5_ENST00000536695.1_Silent_p.L427L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	428						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCCACAAAAAGAGAAGAGA	0.408000													62	35					0	0	0.003610	0	0
CFHR5	81494	broad.mit.edu	37	1	196973938	196973938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196973938G>A	ENST00000367414.5	+	9	1606	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	CFHR5_ENST00000256785.4_Missense_Mutation_p.R493K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	493	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAACATGCAGAAATAAACAG	0.393000													20	13					0	0	0.001216	0	0
MUC2	4583	broad.mit.edu	37	11	1093548	1093548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:1093548C>T	ENST00000359061.5	+	32	5235	c.5235C>T	c.(5233-5235)acC>acT	p.1745_1745insT	MUC2_ENST00000333592.6_Silent_p.T77T|MUC2_ENST00000441003.2_Silent_p.T1789T|MUC2_ENST00000361558.6_Intron			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agagtacaaccgtgacaccca	0.597000													11	3					0	0	0.000673	0	0
VPS13D	55187	broad.mit.edu	37	1	12566915	12566915	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12566915C>A	ENST00000358136.3	+	69	12933	c.12803C>A	c.(12802-12804)gCt>gAt	p.A4268D	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.A266D|VPS13D_ENST00000543710.1_Missense_Mutation_p.A72D|VPS13D_ENST00000356315.4_Missense_Mutation_p.A4243D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4267					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTTCATCGCTGTGGAGAAC	0.567000													13	39					0.000219431	0.000278576	0.002450	1	0
OLFM3	118427	broad.mit.edu	37	1	102270231	102270231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:102270231G>A	ENST00000370103.4	-	6	1153	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.H334Y|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	334	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAAACATTATGAAAACCAGCA	0.443000													7	2					0	0	0.001984	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106498	148106498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:148106498C>T	ENST00000361727.3	+	23	4247	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P303L|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1244					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGGATTTTCCATATAATCCA	0.408000										HNSCC(39;0.1)			38	17					0	0	0.006230	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567128	173567128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:173567128G>A	ENST00000367714.3	-	4	694	c.272C>T	c.(271-273)tCa>tTa	p.S91L	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	91					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGAATAAAGTGAAAAACTTGA	0.303000													26	26					0	0	0.003954	0	0
TRBV2	28620	broad.mit.edu	37	7	142001220	142001220	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142001220G>A	ENST00000455382.2	+	0	386																											CAAAGCTGGAGGACTCAGCCA	0.488000													7	12					0	0	0.001984	0	0
ZNF226	7769	broad.mit.edu	37	19	44681046	44681046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44681046C>T	ENST00000590089.1	+	7	1998	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.S544L|ZNF226_ENST00000337433.5_Missense_Mutation_p.S544L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAAAGTTCGTATCTTCAA	0.443000													22	89					0	0	0.002780	0	0
ZNF407	55628	broad.mit.edu	37	18	72344766	72344766	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:72344766C>T	ENST00000299687.5	+	1	1791	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	ZNF407_ENST00000577538.1_Silent_p.S597S|ZNF407_ENST00000582337.1_Silent_p.S597S|ZNF407_ENST00000309902.6_Silent_p.S597S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATTTATATCCTTGGATGAAA	0.378000													58	22					0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2979511	2979511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:2979511C>T	ENST00000396946.4	-	6	1139	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	246					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGATTTCTCTCCAGCTTACAT	0.478000			Mis		DLBCL								29	114					0	0	0.001786	0	0
C14orf39	317761	broad.mit.edu	37	14	60923639	60923639	+	Missense_Mutation	SNP	C	C	T	rs147627198		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:60923639C>T	ENST00000321731.3	-	15	1513	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	452								p.E452K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCCTACATTTCGAACGGGGGG	0.318000													23	54					0	0	0.004656	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366015	64366015	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:64366015C>T	ENST00000377574.1	+	5	1605	c.858C>T	c.(856-858)ctC>ctT	p.L286L	SLC22A12_ENST00000377567.2_Silent_p.L178L|SLC22A12_ENST00000473690.1_Silent_p.L65L|SLC22A12_ENST00000377572.1_Silent_p.L178L|SLC22A12_ENST00000336464.7_Silent_p.L252L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	286					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CACGATGGCTCCTCACCACAG	0.662000													7	3					0	0	0.003080	0	0
CPED1	79974	broad.mit.edu	37	7	120767240	120767240	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:120767240T>A	ENST00000310396.5	+	10	1698	c.1231T>A	c.(1231-1233)Ttc>Atc	p.F411I	CPED1_ENST00000423795.1_Missense_Mutation_p.F191I|CPED1_ENST00000450913.2_Missense_Mutation_p.F411I	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CAATTTTCTCTTCCCTAATGA	0.289000													11	43					0	0	0.000673	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40235622	40235622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:40235622C>G	ENST00000263791.5	+	3	339	c.296C>G	c.(295-297)tCa>tGa	p.S99*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.S99*|EIF2AK4_ENST00000560648.1_Nonsense_Mutation_p.S99*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.S99*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	99	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAGGTCTATCAAATGAAAGT	0.338000													33	24					0	0	0.003271	0	0
FLT1	2321	broad.mit.edu	37	13	28959163	28959163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:28959163C>T	ENST00000282397.4	-	14	2226	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	FLT1_ENST00000541932.1_Missense_Mutation_p.E659K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	659					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATGGTGCTTCCTGATCTAGT	0.428000													17	64					0	0	0.001523	0	0
WDR19	57728	broad.mit.edu	37	4	39276558	39276558	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:39276558G>A	ENST00000399820.3	+	33	3850	c.3696G>A	c.(3694-3696)aaG>aaA	p.K1232K	WDR19_ENST00000288634.7_Silent_p.K1072K	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1232					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATACAAAAAGAAGATCGAGG	0.443000													5	26					0	0	0.001984	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48847122	48847122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48847122G>A	ENST00000376423.4	-	7	538	c.506C>T	c.(505-507)tCc>tTc	p.S169F	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S222F|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S177F|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.S222F	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	222						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTGCAGCCTGGATGTTTCGGC	0.562000													3	15					0	0	0.000248	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768198	62768198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62768198G>A	ENST00000336232.2	-	3	566	c.431C>T	c.(430-432)tCt>tTt	p.S144F	SLC22A8_ENST00000545207.1_Missense_Mutation_p.S53F|SLC22A8_ENST00000535878.1_Missense_Mutation_p.S21F|SLC22A8_ENST00000430500.2_Missense_Mutation_p.S144F|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.S144F	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	144					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCACCTGTCAGACAGGTCTCC	0.562000													9	8					0	0	0.004482	0	0
SSPO	23145	broad.mit.edu	37	7	149480348	149480348	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:149480348C>T	ENST00000378016.2	+	0	2230							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGCTGTCTCCCTGCACCAC	0.622000													15	35					0	0	0.004990	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055909	17055909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:17055909C>T	ENST00000262096.8	+	6	1158	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	155						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GAAGATGGATCATCATTGTCC	0.264000													15	8					0	0	0.006122	0	0
OR14C36	127066	broad.mit.edu	37	1	248512570	248512570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:248512570C>T	ENST00000317861.1	+	1	494	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCAGCTGCCCTTCTGTCGG	0.502000													22	24					0	0	0.002299	0	0
MYT1L	23040	broad.mit.edu	37	2	1921070	1921070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1921070G>A	ENST00000399161.2	-	11	2272	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P507S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	509					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACACCCGGGGGTTGGACAC	0.498000													40	70					0	0	0.002222	0	0
DNAJC6	9829	broad.mit.edu	37	1	65878698	65878698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:65878698C>T	ENST00000395325.3	+	19	2889	c.2732C>T	c.(2731-2733)cCc>cTc	p.P911L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.P898L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P968L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	911	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGCCAAAAGCCCTTATATTAA	0.418000													38	43					0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9088841	9088841	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9088841G>C	ENST00000397910.4	-	1	3177	c.2974C>G	c.(2974-2976)Ctc>Gtc	p.L992V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	992	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGCAGAGAGAGAAGTGGCA	0.473000													42	134					0	0	0.002522	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900008	151900008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:151900008C>T	ENST00000393900.3	-	3	1146	c.793G>A	c.(793-795)Gat>Aat	p.D265N	MAGEA12_ENST00000357916.4_Missense_Mutation_p.D265N|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D265N	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	265	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCAGGATCACTGCCGGGG	0.552000													30	77					0	0	0.001786	0	0
DSG4	147409	broad.mit.edu	37	18	28992947	28992947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:28992947C>T	ENST00000359747.4	+	15	2598	c.2569C>T	c.(2569-2571)Cca>Tca	p.P857S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P838S|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	838					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACTTTAGATCCAAAATTTAG	0.438000													27	14					0	0	0.005443	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984085	41984085	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:41984085C>T	ENST00000333141.5	+	1	373	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	92										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGAACCAGGTCGAAGTCGAAG	0.537000													13	37					0	0	0.003163	0	0
OR4D1	26689	broad.mit.edu	37	17	56232809	56232809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:56232809G>A	ENST00000268912.5	+	1	316	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGGCTGCATGGCCCAGATCTT	0.527000													133	19					0	0	0.003610	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431116	140431116	+	Silent	SNP	C	C	T	rs75402992		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140431116C>T	ENST00000306549.3	+	1	138	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCATTTTTCTGTGCATATC	0.512000													19	23					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179413263	179413263	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179413263C>T	ENST00000589042.1	-	339	93314	c.93090G>A	c.(93088-93090)cgG>cgA	p.R31030R	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.R22157R|TTN_ENST00000460472.2_Silent_p.R21965R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.R29389R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R28462R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.R22090R|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29389	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCAGATCCCCGGGTCACAT	0.512000													38	63					0	0	0.006230	0	0
GOLGA4	2803	broad.mit.edu	37	3	37379169	37379169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:37379169C>T	ENST00000361924.2	+	19	6714	c.6340C>T	c.(6340-6342)Cag>Tag	p.Q2114*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q2129*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2114					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGCTAGCACAGAAGACGAC	0.373000													13	11					0	0	0.001368	0	0
NXF4	55999	broad.mit.edu	37	X	101818182	101818182	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:101818182C>T	ENST00000360035.2	+	0	772					NR_002216.1															endometrium(2)|lung(8)	10						CTCTTGATCTCCAGAGGCTCC	0.532000													39	93					0	0	0.002222	0	0
DCLK1	9201	broad.mit.edu	37	13	36348752	36348752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:36348752G>A	ENST00000360631.3	-	17	2354	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	DCLK1_ENST00000379893.1_Missense_Mutation_p.P408S|DCLK1_ENST00000255448.4_3'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	715					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGTTCGGGAGGAGCTGGCTGC	0.542000													5	6					0	0	0.001168	0	0
FLNC	2318	broad.mit.edu	37	7	128486097	128486097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128486097G>A	ENST00000325888.8	+	22	4105	c.3844G>A	c.(3844-3846)Gcc>Acc	p.A1282T	FLNC_ENST00000346177.6_Missense_Mutation_p.A1282T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1282					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCCCTAACAGCCACAGGCGG	0.627000													28	14					0	0	0.002096	0	0
WNK3	65267	broad.mit.edu	37	X	54337606	54337606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54337606C>T	ENST00000354646.2	-	3	1094	c.656G>A	c.(655-657)gGa>gAa	p.G219E	WNK3_ENST00000375159.2_Missense_Mutation_p.G219E|WNK3_ENST00000375169.3_Missense_Mutation_p.G219E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	219	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACATTTCTTTCCTTTTAATAT	0.373000													8	17					0	0	0.003080	0	0
CRABP1	1381	broad.mit.edu	37	15	78633401	78633401	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:78633401G>A	ENST00000299529.6	+	2	192	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	29					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	ACGCCATGCTGAGGAAAGTGG	0.642000													18	10					0	0	0.006122	0	0
MED12L	116931	broad.mit.edu	37	3	150911370	150911370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:150911370G>A	ENST00000474524.1	+	14	2100	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MED12L_ENST00000273432.4_Missense_Mutation_p.E548K|MED12L_ENST00000309237.4_Missense_Mutation_p.E723K|MED12L_ENST00000422248.2_Missense_Mutation_p.E688K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	688					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGAAGAGGGAAAAGCCAAG	0.408000													15	55					0	0	0.002450	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587270	33587270	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:33587270T>C	ENST00000170564.2	+	7	1084	c.770T>C	c.(769-771)cTt>cCt	p.L257P		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	257						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CATTTTAATCTTTTCAGTGGT	0.423000													25	78					0	0	0.004656	0	0
PMF1-BGLAP	100527963	broad.mit.edu	37	1	156212553	156212553	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156212553C>T	ENST00000490491.1	+	6	638	c.603_splice	c.e6-1	p.P202_splice	PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.S136_splice|PMF1_ENST00000567140.1_Splice_Site_p.S181_splice|PMF1_ENST00000565805.1_Splice_Site_p.S136_splice|BGLAP_ENST00000368272.4_Splice_Site_p.A35_splice|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.S181_splice	NM_001199662.1	NP_001186591.1	Q6P1K2	PMF1_HUMAN		0					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity										TGCTCCACAGCCTTTGTGTCC	0.622000													21	25					0	0	0.002299	0	0
MROH7	374977	broad.mit.edu	37	1	55145668	55145668	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55145668C>T	ENST00000414150.2	+	13	2609	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	MROH7_ENST00000454855.2_Silent_p.F295F|MROH7_ENST00000545244.1_Silent_p.F345F|MROH7_ENST00000421030.2_Silent_p.F777F|MROH7_ENST00000409996.1_Silent_p.F345F|MROH7_ENST00000339553.5_Silent_p.F777F|MROH7_ENST00000395690.2_Silent_p.F777F					maestro heat-like repeat family member 7																		CTAGCTCCTTCATGACCGAGG	0.607000													43	98					0	0	0.002852	0	0
ADARB2	105	broad.mit.edu	37	10	1230823	1230823	+	Missense_Mutation	SNP	C	C	T	rs143420247		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:1230823C>T	ENST00000381312.1	-	9	2346	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	ADARB2_ENST00000381310.3_Missense_Mutation_p.R183Q|ADARB2_ENST00000381305.1_Missense_Mutation_p.R76Q	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	674	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGCGCCCACCGTGCAGACAG	0.662000													5	15					0	0	0.003080	0	0
KIFC1	3833	broad.mit.edu	37	6	33372840	33372840	+	Missense_Mutation	SNP	G	G	A	rs145666693	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33372840G>A	ENST00000428849.2	+	7	1418	c.968G>A	c.(967-969)gGg>gAg	p.G323E		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	323	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTCCTGCCGGGGGAGCCCACT	0.657000													52	6					0	0	0.003610	0	0
UBE3A	7337	broad.mit.edu	37	15	25616063	25616063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25616063G>A	ENST00000232165.3	-	6	1914	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	UBE3A_ENST00000428984.2_Missense_Mutation_p.P400S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.P423S|UBE3A_ENST00000438097.1_Missense_Mutation_p.P400S|UBE3A_ENST00000566215.1_Missense_Mutation_p.P400S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	423	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCCACTCGAGGACCTTTCTTG	0.433000													24	9					0	0	0.003330	0	0
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163374646G>A	ENST00000332142.5	-	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.F162F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388000													6	4					0	0	0.001168	0	0
PCSK7	9159	broad.mit.edu	37	11	117089788	117089788	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:117089788G>A	ENST00000320934.3	-	11	2046	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	PCSK7_ENST00000540028.1_Silent_p.L113L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	472	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTGCATTCACGAGCCTCCAGG	0.597000			T	IGH@	MLCLS								5	11					0	0	0.000602	0	0
PRRG3	79057	broad.mit.edu	37	X	150869255	150869255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:150869255G>A	ENST00000370353.3	+	4	836	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	PRRG3_ENST00000538575.1_Missense_Mutation_p.R149Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	149						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGCACCGAGAGGCAGCG	0.677000													25	23					0	0	0.003954	0	0
OPN1SW	611	broad.mit.edu	37	7	128413859	128413859	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128413859G>A	ENST00000249389.2	-	4	770	c.771C>T	c.(769-771)tcC>tcT	p.S257S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	257					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGACACAGAAGGATCCTACCA	0.572000													29	15					0	0	0.006320	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882512	78882512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:78882512C>T	ENST00000299565.5	+	5	979	c.779C>T	c.(778-780)cCc>cTc	p.P260L	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	260					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						CTTATAATACCCTGTATTGGG	0.393000													62	41					0	0	0.003610	0	0
OR6C1	390321	broad.mit.edu	37	12	55715062	55715062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55715062C>T	ENST00000379668.2	+	1	717	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTGAGAATTCCTTCTACTAG	0.378000													40	11					0	0	0.006230	0	0
IL16	3603	broad.mit.edu	37	15	81592267	81592267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:81592267C>T	ENST00000394660.2	+	14	2960	c.2600C>T	c.(2599-2601)tCc>tTc	p.S867F	IL16_ENST00000394652.2_Missense_Mutation_p.S166F|IL16_ENST00000302987.4_Missense_Mutation_p.S867F|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	867					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTCCAGCCCTCCTCTGGGGAG	0.587000													5	39					0	0	0.000602	0	0
SKIL	6498	broad.mit.edu	37	3	170078455	170078455	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:170078455C>T	ENST00000458537.3	+	1	1045	c.336C>T	c.(334-336)tcC>tcT	p.S112S	SKIL_ENST00000426052.2_Silent_p.S92S|SKIL_ENST00000413427.2_Silent_p.S112S|SKIL_ENST00000259119.4_Silent_p.S112S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	112					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCGGCATTCCCAAGAAAGCA	0.478000													113	84					0	0	0.003610	0	0
LRP8	7804	broad.mit.edu	37	1	53723019	53723019	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:53723019T>G	ENST00000306052.6	-	15	2428	c.2327A>C	c.(2326-2328)gAg>gCg	p.E776A	LRP8_ENST00000371454.2_Missense_Mutation_p.E776A|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Missense_Mutation_p.E606A|LRP8_ENST00000465675.1_Missense_Mutation_p.E329A|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	776	Clustered O-linked oligosaccharides.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCTTGGTGTCTCTGTGCTGTG	0.592000													12	15					0	0	0.000978	0	0
KCNK3	3777	broad.mit.edu	37	2	26950690	26950690	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26950690C>T	ENST00000302909.3	+	2	564	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	147					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGAAGGGGCTGGGCATGCG	0.662000													31	50					0	0	0.003271	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474384	140474384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140474384G>A	ENST00000194155.4	+	1	158	c.10G>A	c.(10-12)Gga>Aga	p.G4R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGAGGCCGGAGAGGGGAA	0.527000													25	29					0	0	0.003330	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704232	29704232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:29704232C>T	ENST00000471961.1	+	1	1185	c.137C>T	c.(136-138)cCg>cTg	p.P46L	GAS2L1_ENST00000407854.1_Missense_Mutation_p.P46L|GAS2L1_ENST00000341313.6_Missense_Mutation_p.P46L|GAS2L1_ENST00000360113.2_Missense_Mutation_p.P46L|GAS2L1_ENST00000403764.1_Missense_Mutation_p.P46L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.P46L|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P46L			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	46	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CTGGGTCTCCCGGGTGGTGGC	0.672000													5	10					0	0	0.001168	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736244	140736244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140736244G>A	ENST00000571252.1	+	1	1477	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTGGCCGAAGACACCTT	0.493000													40	88					0	0	0.005524	0	0
DNAH8	1769	broad.mit.edu	37	6	38893853	38893853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38893853G>A	ENST00000359357.3	+	72	10588	c.10334G>A	c.(10333-10335)gGa>gAa	p.G3445E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G3409E|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3662E|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGCTACAGGGATTACCAGGA	0.428000													85	14					0	0	0.003610	0	0
BMP2K	55589	broad.mit.edu	37	4	79786837	79786837	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:79786837C>T	ENST00000335016.5	+	10	1360	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	BMP2K_ENST00000502871.1_Silent_p.V398V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	398						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CTGTTAAAGTCCTTGCTCCTG	0.438000													11	44					0	0	0.001855	0	0
SYNE1	23345	broad.mit.edu	37	6	152576061	152576061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:152576061C>T	ENST00000367255.5	-	104	20025	c.19424G>A	c.(19423-19425)cGa>cAa	p.R6475Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.R6475Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6404Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6087Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6404Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R999Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6475					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGACATCGTTGATTCAC	0.363000										HNSCC(10;0.0054)			21	4					0	0	0.002299	0	0
ARL13A	392509	broad.mit.edu	37	X	100242503	100242503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100242503C>T	ENST00000450049.2	+	6	724	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	204							GTP binding			endometrium(1)|ovary(1)	2						ATCTCAATCTCCAAGAATAAC	0.458000													14	44					0	0	0.004990	0	0
PELP1	27043	broad.mit.edu	37	17	4578163	4578163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4578163C>T	ENST00000301396.4	-	12	2020	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	PELP1_ENST00000572293.1_Missense_Mutation_p.G505R|PELP1_ENST00000574876.1_Missense_Mutation_p.G455R|PELP1_ENST00000269230.7_Missense_Mutation_p.G453R|PELP1_ENST00000436683.2_Missense_Mutation_p.G308R			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	455					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCCTCTCCAGAGGCTCCT	0.612000													53	8					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171980	207171980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:207171980G>A	ENST00000374423.3	+	5	3114	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	910							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAGGAAAATGAACCTATTGA	0.353000													10	22					0	0	0.006214	0	0
ITIH6	347365	broad.mit.edu	37	X	54823447	54823447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:54823447G>A	ENST00000218436.6	-	2	214	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	62	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTCAGCATGTGGATTAAACAG	0.473000													13	37					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227216	25227216	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:25227216C>T	ENST00000551631.2	+	0	519				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTCTGAAATCCAGTCAGTGTG	0.363000													58	161					0	0	0.003610	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396198	136396198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:136396198C>T	ENST00000264160.4	+	12	1284	c.914C>T	c.(913-915)tCc>tTc	p.S305F	R3HDM1_ENST00000329971.3_Missense_Mutation_p.S261F|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S305F|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S249F|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S261F	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	305							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCCCTGTGTTCCCAAGAGAAT	0.299000													6	32					0	0	0.003080	0	0
NTSR1	4923	broad.mit.edu	37	20	61340784	61340784	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:61340784G>A	ENST00000370501.3	+	1	596	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	75						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCTCTTCGTGGTGGGCACGG	0.667000													24	41					0	0	0.002299	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507297	98507297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98507297C>T	ENST00000265261.6	+	8	814	c.392C>T	c.(391-393)cCc>cTc	p.P131L	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.P249L|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.P249L	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	249					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAGTGTTTCCCAAAAATCAG	0.378000													7	54					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179435234	179435234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179435234C>T	ENST00000589042.1	-	326	75849	c.75625G>A	c.(75625-75627)Gaa>Aaa	p.E25209K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16336K|TTN_ENST00000460472.2_Missense_Mutation_p.E16144K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23568K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22641K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16269K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23568	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTCCTTCAGGTGGCCCT	0.438000													5	16					0	0	0.001168	0	0
HCN2	610	broad.mit.edu	37	19	603796	603796	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:603796C>T	ENST00000251287.2	+	2	938	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	295					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGACTTCGTGTCCTCCA	0.567000													14	74					0	0	0.002450	0	0
ABCB11	8647	broad.mit.edu	37	2	169787294	169787294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:169787294C>T	ENST00000263817.6	-	25	3416	c.3292G>A	c.(3292-3294)Ggt>Agt	p.G1098S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1098	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACTGAGAGACCATTCAGAACT	0.453000													12	15					0	0	0.000978	0	0
GABRP	2568	broad.mit.edu	37	5	170235689	170235689	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:170235689C>T	ENST00000518525.1	+	9	1229	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GABRP_ENST00000519385.1_Silent_p.F255F|GABRP_ENST00000265294.4_Silent_p.F255F|GABRP_ENST00000519598.1_Silent_p.F255F			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	255						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCACTTTCCTGGTGGTGT	0.428000													17	25					0	0	0.006122	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	9					0	0	0.002096	0	0
N4BP2	55728	broad.mit.edu	37	4	40121980	40121980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40121980C>T	ENST00000261435.6	+	9	2665	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	750						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATGAAAAATCCTCACCTGGT	0.378000													15	48					0	0	0.003163	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242443	18242443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:18242443G>A	ENST00000377369.2	+	2	511	c.238G>A	c.(238-240)Gga>Aga	p.G80R	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G80R|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G80R	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	80					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAGGAGAAACGGAATGCAAGG	0.468000													9	10					0	0	0.006214	0	0
ABCA6	23460	broad.mit.edu	37	17	67075194	67075194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:67075194C>T	ENST00000284425.2	-	39	4948	c.4774G>A	c.(4774-4776)Gaa>Aaa	p.E1592K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1592					transport	integral to membrane	ATP binding|ATPase activity	p.E1592Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTCCTGTTCTTTAGAAAGC	0.348000													28	5					0	0	0.004656	0	0
SCN4A	6329	broad.mit.edu	37	17	62049958	62049958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:62049958C>T	ENST00000578147.1	-	1	320	c.244G>A	c.(244-246)Gac>Aac	p.D82N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D82N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	82					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGATCCAGGTCCTCCAGGGGG	0.597000													16	2					0	0	0.003163	0	0
KCNV1	27012	broad.mit.edu	37	8	110985004	110985004	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:110985004C>T	ENST00000524391.1	-	3	1506	c.474G>A	c.(472-474)agG>agA	p.R158R	KCNV1_ENST00000297404.1_Silent_p.R158R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	158						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCAGCTCTTTCCTTCTGAAGT	0.383000													40	29					0	0	0.001951	0	0
CECR1	51816	broad.mit.edu	37	22	17688080	17688080	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:17688080C>T	ENST00000399839.1	-	3	693	c.423G>A	c.(421-423)agG>agA	p.R141R	CECR1_ENST00000449907.2_Silent_p.R99R|CECR1_ENST00000399837.2_Silent_p.R141R|CECR1_ENST00000262607.3_Silent_p.R141R			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	141	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCATGATCCCCCTTGGGGTGA	0.537000													70	24					0	0	0.003610	0	0
DCTN4	51164	broad.mit.edu	37	5	150138553	150138553	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150138553C>T	ENST00000447998.2	-	1	118	c.3G>A	c.(1-3)atG>atA	p.M1I	DCTN4_ENST00000446090.2_Start_Codon_SNP_p.M1I	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	1						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGGACGCCATCTTGGGGA	0.602000													8	36					0	0	0.003080	0	0
IL18	3606	broad.mit.edu	37	11	112014327	112014327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:112014327C>T	ENST00000280357.7	-	6	793	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	IL18_ENST00000528832.1_Missense_Mutation_p.E192K|SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.E188K	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	192					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AGCTAGTCTTCGTTTTGAACA	0.443000													4	9					0	0	0.000602	0	0
NEBL	10529	broad.mit.edu	37	10	21250667	21250667	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:21250667G>A	ENST00000417816.2	-	4	644	c.291C>T	c.(289-291)ggC>ggT	p.G97G	NEBL_ENST00000377159.4_Silent_p.G63G	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	761					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGATGCTGAAGCCCCTCCCTT	0.463000													16	36					0	0	0.001882	0	0
RXRB	6257	broad.mit.edu	37	6	33166144	33166144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33166144G>A	ENST00000374680.3	-	3	792	c.581C>T	c.(580-582)cCt>cTt	p.P194L	RXRB_ENST00000413614.2_Missense_Mutation_p.P98L|RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Missense_Mutation_p.P194L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	194	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCCACCTGGAGGGGGTGGACA	0.612000													118	28					0	0	0.003610	0	0
KLHL6	89857	broad.mit.edu	37	3	183209742	183209742	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:183209742C>T	ENST00000341319.3	-	7	1874	c.1839G>A	c.(1837-1839)agG>agA	p.R613R		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGGCACGATCCTGCGGATGT	0.672000													54	25					0	0	0.003610	0	0
WRN	7486	broad.mit.edu	37	8	30948373	30948373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:30948373C>T	ENST00000298139.5	+	15	1993	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	582	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTGTGCTTCCAGTATCCACC	0.313000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				12	51					0	0	0.001855	0	0
CCDC167	154467	broad.mit.edu	37	6	37450986	37450986	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:37450986G>A	ENST00000373408.3	-	4	328	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	90						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						AGGCATAGACGAGCGTCAGGA	0.537000													49	12					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132161741	132161741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:132161741C>T	ENST00000511190.1	-	6	977	c.508G>A	c.(508-510)Gga>Aga	p.G170R	USP26_ENST00000406273.1_Missense_Mutation_p.G170R|USP26_ENST00000370832.1_Missense_Mutation_p.G170R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	170					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GATAACTCTCCGCAAGTAAGT	0.373000													9	23					0	0	0.004482	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719216	40719216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40719216C>T	ENST00000454349.2	+	23	5684	c.5473C>T	c.(5473-5475)Ctt>Ttt	p.L1825F	TNRC6B_ENST00000335727.8_Missense_Mutation_p.L1715F|TNRC6B_ENST00000301923.9_Missense_Mutation_p.L1021F|TNRC6B_ENST00000402203.1_Missense_Mutation_p.L1021F	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1825					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACCTGGTGACCTTCTGGGAGG	0.502000													23	45					0	0	0.007291	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948523	3948523	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:3948523C>T	ENST00000281228.8	-	0	862				FAM86EP_ENST00000313946.8_RNA																							GCTGGCACGTCTGTGGGTTGT	0.652000													19	35					0	0	0.007413	0	0
DAB1	1600	broad.mit.edu	37	1	57611022	57611022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57611022C>T	ENST00000371236.2	-	3	411	c.148G>A	c.(148-150)Gat>Aat	p.D50N	DAB1_ENST00000371230.1_Missense_Mutation_p.D50N|DAB1_ENST00000439789.2_Missense_Mutation_p.D50N|DAB1_ENST00000420954.2_Missense_Mutation_p.D50N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.D50N|DAB1_ENST00000414851.2_Missense_Mutation_p.D50N|DAB1_ENST00000371234.4_Missense_Mutation_p.D50N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	50	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAAACTTCATCAATCCCGATC	0.408000													26	22					0	0	0.004656	0	0
FHDC1	85462	broad.mit.edu	37	4	153897264	153897264	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:153897264C>G	ENST00000511601.1	+	12	3009	c.2821C>G	c.(2821-2823)Cgc>Ggc	p.R941G	FHDC1_ENST00000260008.3_Missense_Mutation_p.R941G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	941					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGTGTGGTCACGCCAGAACTC	0.697000													19	16					0	0	0.007413	0	0
EXPH5	23086	broad.mit.edu	37	11	108389067	108389067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:108389067G>A	ENST00000265843.4	-	5	636	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	EXPH5_ENST00000443411.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.H100Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.H169Y|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	176					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAACTAGATGATTTTCCAGA	0.433000													5	16					0	0	0.000602	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370222	20370222	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:20370222C>T	ENST00000593655.1	-	0	199																											TGTGACTGTTCGATAAACTCC	0.413000													21	16					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9061313	9061313	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9061313C>T	ENST00000397910.4	-	3	26336	c.26133G>A	c.(26131-26133)agG>agA	p.R8711R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTGATCTCCCTTAATCCAG	0.493000													17	9					0	0	0.006122	0	0
MPP3	4356	broad.mit.edu	37	17	41901338	41901338	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:41901338G>A	ENST00000398393.1	-	8	980	c.720C>T	c.(718-720)atC>atT	p.I240I	MPP3_ENST00000398389.4_Silent_p.I215I			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	215	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGGTGGCTGGGATGATTTTTA	0.557000													86	11					0	0	0.003610	0	0
HTR1F	3355	broad.mit.edu	37	3	88040393	88040393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:88040393G>A	ENST00000319595.4	+	1	548	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	165					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AGGCACCAAGGAACTAGCAGA	0.413000													16	15					0	0	0.004990	0	0
LMOD3	56203	broad.mit.edu	37	3	69168224	69168224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69168224G>A	ENST00000420581.2	-	2	1461	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	LMOD3_ENST00000489031.1_Missense_Mutation_p.P428S|LMOD3_ENST00000475434.1_Missense_Mutation_p.P428S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	428						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CACATCCCAGGGGGCAGCCCC	0.542000													28	22					0	0	0.006320	0	0
PNMA5	114824	broad.mit.edu	37	X	152159655	152159655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:152159655G>A	ENST00000439251.1	-	2	926	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PNMA5_ENST00000452693.1_Missense_Mutation_p.S163L|PNMA5_ENST00000361887.5_Missense_Mutation_p.S163L|PNMA5_ENST00000535214.1_Missense_Mutation_p.S163L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	163					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGTTCCCGAAAACACTTT	0.522000													43	82					0	0	0.002222	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432649	1432649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1432649C>T	ENST00000270349.9	-	4	710	c.583G>A	c.(583-585)Ggt>Agt	p.G195S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G195S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	195					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTGGAGTCACCAGGATGGGCA	0.602000													22	40					0	0	0.004656	0	0
IRGC	56269	broad.mit.edu	37	19	44223817	44223817	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44223817G>A	ENST00000244314.5	+	2	1306	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	369						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGTGTTTGGGACGCTGGTGG	0.652000													23	17					0	0	0.003330	0	0
PAK7	57144	broad.mit.edu	37	20	9546751	9546751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9546751G>A	ENST00000378429.3	-	6	1817	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	PAK7_ENST00000378423.1_Missense_Mutation_p.P424L|PAK7_ENST00000353224.5_Missense_Mutation_p.P424L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	424	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CACCCTGGAGGGCTGCTGGTC	0.617000													38	46					0	0	0.004289	0	0
SEL1L3	23231	broad.mit.edu	37	4	25823696	25823696	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:25823696C>T	ENST00000399878.3	-	7	1334	c.1212G>A	c.(1210-1212)ggG>ggA	p.G404G	SEL1L3_ENST00000264868.5_Silent_p.G369G|SEL1L3_ENST00000502949.1_Silent_p.G251G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	404						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATACCTGCTCCCTCCAATAA	0.512000													7	28					0	0	0.001984	0	0
CASR	846	broad.mit.edu	37	3	122003859	122003859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:122003859G>A	ENST00000498619.1	+	7	3526	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CASR_ENST00000296154.5_Missense_Mutation_p.E1020K|CASR_ENST00000490131.1_Missense_Mutation_p.E1020K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1020					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGTGCGGGGAAACGGACTT	0.602000													18	46					0	0	0.001216	0	0
DGKZ	8525	broad.mit.edu	37	11	46398734	46398734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:46398734C>T	ENST00000454345.1	+	26	3003	c.2878C>T	c.(2878-2880)Ccc>Tcc	p.P960S	DGKZ_ENST00000395574.3_Missense_Mutation_p.P738S|DGKZ_ENST00000343674.6_Missense_Mutation_p.P788S|DGKZ_ENST00000527911.1_Missense_Mutation_p.P772S|DGKZ_ENST00000421244.2_Missense_Mutation_p.P772S|DGKZ_ENST00000456247.2_Missense_Mutation_p.P771S|DGKZ_ENST00000528615.1_Missense_Mutation_p.P550S|DGKZ_ENST00000532868.2_Missense_Mutation_p.P776S|DGKZ_ENST00000318201.8_Missense_Mutation_p.P749S|DGKZ_ENST00000543978.1_Missense_Mutation_p.P124S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	960					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTCCCCTCTCCCCACCTCACC	0.627000													7	10					0	0	0.004482	0	0
FSTL5	56884	broad.mit.edu	37	4	162307361	162307361	+	Silent	SNP	C	C	T	rs35820116	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:162307361C>T	ENST00000306100.5	-	16	2518	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	FSTL5_ENST00000427802.2_Silent_p.T684T|FSTL5_ENST00000379164.4_Silent_p.T693T|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.T693T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	694						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGAGTGCCCGTCACATCAC	0.478000													13	31					0	0	0.001368	0	0
RBM3	5935	broad.mit.edu	37	X	48433953	48433953	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:48433953C>T	ENST00000376759.3	+	3	171	c.108C>T	c.(106-108)gtC>gtT	p.V36V	RBM3_ENST00000376755.1_Silent_p.V36V|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	36	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCACAGTGGTCGTTGTCAAGG	0.537000													14	29					0	0	0.002450	0	0
CCM2L	140706	broad.mit.edu	37	20	30616856	30616856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:30616856C>T	ENST00000300415.8	+	8	1205	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	CCM2L_ENST00000262659.8_Silent_p.S376S|RP1-310O13.7_ENST00000449519.1_RNA					cerebral cavernous malformation 2-like																		ACCTTCTTTCCATGGCTCCCA	0.602000													117	166					0	0	0.003610	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113954	107113954	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:107113954G>A	ENST00000454421.2	-	0	217																											TACTGAAGGTGAATCCAGAGG	0.547000													35	183					0	0	0.003755	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28280972	28280972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:28280972G>A	ENST00000373894.3	+	5	816	c.625G>A	c.(625-627)Gac>Aac	p.D209N	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.D209N|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.D161N	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	209					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGACATGGCGGACCCTGGCCA	0.567000													73	62					0	0	0.003610	0	0
DDX52	11056	broad.mit.edu	37	17	35993378	35993378	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:35993378T>C	ENST00000349699.2	-	3	400	c.357A>G	c.(355-357)aaA>aaG	p.K119K	DDX52_ENST00000394367.3_Silent_p.K11K	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	119						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCTGAACTTTTTTGTCTTCAA	0.303000													89	10					0	0	0.003610	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22867576	22867576	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:22867576C>T	ENST00000283645.4	+	19	2782	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	TUBGCP5_ENST00000453949.2_Silent_p.F884F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	884					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATCGCATGTTCCTCTTAAGAG	0.438000													46	38					0	0	0.003610	0	0
OR13C8	138802	broad.mit.edu	37	9	107331676	107331676	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:107331676C>T	ENST00000335040.1	+	1	228	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACACAAGTTCCTCTGTCCCAC	0.438000													100	27					0	0	0.003610	0	0
LOC400867	400867	broad.mit.edu	37	21	40250480	40250480	+	RNA	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:40250480A>T	ENST00000380931.2	-	0	2557																											GTTACCCAAGAGAGCTGTCTG	0.522000													5	2					0	0	0.000602	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966347	41966347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:41966347G>A	ENST00000298919.7	+	10	1374	c.986G>A	c.(985-987)gGg>gAg	p.G329E	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G331E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G589E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	589							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGACCTGGGGCAGAGCCAA	0.498000													26	2					0	0	0.003330	0	0
TTC16	158248	broad.mit.edu	37	9	130493071	130493071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:130493071G>A	ENST00000373289.3	+	14	2089	c.2009G>A	c.(2008-2010)aGa>aAa	p.R670K	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	670							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CATGGTCCCAGAAAAATCAAG	0.577000													41	6					0	0	0.006999	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432760	140432760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140432760G>A	ENST00000306549.3	+	1	1782	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		569					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCAGAACGGCACCTTGCC	0.522000													13	55					0	0	0.001368	0	0
CCDC141	285025	broad.mit.edu	37	2	179714835	179714835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179714835C>T	ENST00000420890.2	-	21	3415	c.3298G>A	c.(3298-3300)Gtt>Att	p.V1100I	CCDC141_ENST00000295723.5_Missense_Mutation_p.V525I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	525							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATTCAAGAACCTCTTTGTGT	0.348000													11	34					0	0	0.001855	0	0
GHRH	2691	broad.mit.edu	37	20	35882719	35882719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:35882719C>T	ENST00000373614.2	-	4	313	c.202G>A	c.(202-204)Gag>Aag	p.E68K	GHRH_ENST00000237527.3_Missense_Mutation_p.E68K|GHRH_ENST00000373611.2_Missense_Mutation_p.E68K			P01286	SLIB_HUMAN	growth hormone releasing hormone	68					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GCTCCTCGCTCTTGGTTGCTC	0.493000													86	150					0	0	0.003610	0	0
RPGR	6103	broad.mit.edu	37	X	38146214	38146214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:38146214C>T	ENST00000378505.2	-	15	2214	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	669	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctacccttgtctttctccccc	0.532000													18	56					0	0	0.006122	0	0
MACF1	23499	broad.mit.edu	37	1	39801409	39801409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:39801409C>T	ENST00000564288.1	+	37	9926	c.9149C>T	c.(9148-9150)cCt>cTt	p.P3050L	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P3055L|MACF1_ENST00000567887.1_Missense_Mutation_p.P3087L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1490L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3055					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGTGGTACCTCAAGGAATT	0.358000													6	28					0	0	0.001984	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960534	73960534	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73960534C>T	ENST00000373468.1	-	3	4509	c.3858G>A	c.(3856-3858)ggG>ggA	p.G1286G	KIAA2022_ENST00000055682.5_Silent_p.G1286G			Q5QGS0	K2022_HUMAN	KIAA2022	1286					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCTCTCCTTCCCCAAGGCCC	0.517000													17	21					0	0	0.004990	0	0
RASAL1	8437	broad.mit.edu	37	12	113537768	113537768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:113537768C>T	ENST00000546530.1	-	22	2672	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	RASAL1_ENST00000261729.5_Missense_Mutation_p.R794Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.R766Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R795Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	794					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGCCTTCCCTCGCTCCTGCTG	0.672000													38	41					0	0	0.002222	0	0
PACRGL	133015	broad.mit.edu	37	4	20706352	20706352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:20706352C>T	ENST00000360916.5	+	3	513	c.122C>T	c.(121-123)tCc>tTc	p.S41F	PACRGL_ENST00000538990.1_Missense_Mutation_p.S41F|PACRGL_ENST00000507634.1_Missense_Mutation_p.S41F|PACRGL_ENST00000295290.8_Missense_Mutation_p.S41F|PACRGL_ENST00000444671.2_Missense_Mutation_p.S41F|PACRGL_ENST00000502938.1_Missense_Mutation_p.S41F|PACRGL_ENST00000513459.1_Missense_Mutation_p.S41F|PACRGL_ENST00000502374.1_Missense_Mutation_p.S41F|PACRGL_ENST00000503585.1_Missense_Mutation_p.S41F	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	41							binding			endometrium(2)|lung(7)|prostate(1)	10						GGAAGCAAATCCTCATTGTCA	0.388000													11	37					0	0	0.001368	0	0
LRRC6	23639	broad.mit.edu	37	8	133645158	133645158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:133645158C>T	ENST00000519595.1	-	5	579	c.481G>A	c.(481-483)Gac>Aac	p.D161N	LRRC6_ENST00000250173.1_Missense_Mutation_p.D161N|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.D161N			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	161	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGAATAGTCCTGCAATGCC	0.373000													19	37					0	0	0.006122	0	0
HGF	3082	broad.mit.edu	37	7	81335623	81335623	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:81335623C>T	ENST00000222390.5	-	15	1963	c.1737G>A	c.(1735-1737)ctG>ctA	p.L579L	HGF_ENST00000457544.2_Silent_p.L574L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	579	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATTAAAACCAGATCTGATC	0.423000													11	44					0	0	0.001368	0	0
MET	4233	broad.mit.edu	37	7	116414937	116414937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:116414937C>T	ENST00000397752.3	+	15	3231	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	MET_ENST00000318493.6_Nonsense_Mutation_p.Q1029*	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1011					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTTACAGATCAGTTTCCTAA	0.383000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				10	48					0	0	0.000978	0	0
MED24	9862	broad.mit.edu	37	17	38209599	38209599	+	Silent	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:38209599G>T	ENST00000394126.1	-	2	658	c.240C>A	c.(238-240)tcC>tcA	p.S80S	MED24_ENST00000394128.2_Silent_p.S55S|MED24_ENST00000394127.2_Silent_p.S55S|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000501516.3_Silent_p.S55S|MED24_ENST00000356271.3_Silent_p.S55S			O75448	MED24_HUMAN	mediator complex subunit 24	55					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAGGATTGGGGGATGGTCCAA	0.473000													115	15					4.64599e-62	5.98224e-62	0.003610	1	0
FMN2	56776	broad.mit.edu	37	1	240256706	240256706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240256706C>T	ENST00000319653.9	+	1	1527	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAATCACTCCCCGTCTCAGTC	0.672000													30	28					0	0	0.004289	0	0
TACC1	6867	broad.mit.edu	37	8	38696041	38696041	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:38696041C>T	ENST00000379931.3	+	9	2308	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000330691.6_Silent_p.T205T|TACC1_ENST00000443286.2_Silent_p.T618T|TACC1_ENST00000518415.1_Silent_p.T557T|TACC1_ENST00000276520.8_Silent_p.T221T|TACC1_ENST00000520615.1_Silent_p.T436T|TACC1_ENST00000519416.1_Silent_p.T435T|TACC1_ENST00000317827.4_Silent_p.T631T|TACC1_ENST00000348567.4_Silent_p.T193T|TACC1_ENST00000520340.1_Silent_p.T566T|TACC1_ENST00000520973.1_Silent_p.T407T|TACC1_ENST00000520611.1_Silent_p.T69T			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	631					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACGAAGAGACCCGGCAAGAAG	0.373000													34	23					0	0	0.004878	0	0
SMOC1	64093	broad.mit.edu	37	14	70420177	70420177	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70420177C>T	ENST00000381280.4	+	3	559	c.306C>T	c.(304-306)gcC>gcT	p.A102A	SMOC1_ENST00000361956.3_Silent_p.A102A	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	102	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGGCTCAAGCCCTGGAGCAAG	0.572000													26	53					0	0	0.006320	0	0
PCSK5	5125	broad.mit.edu	37	9	78803514	78803514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:78803514C>T	ENST00000545128.1	+	18	2841	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	PCSK5_ENST00000376752.4_Missense_Mutation_p.S768F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	768	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCCCGGTGCTCTGTCTCCTGT	0.517000													33	13					0	0	0.003755	0	0
CDCP1	64866	broad.mit.edu	37	3	45153707	45153707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:45153707C>T	ENST00000296129.1	-	3	657	c.523G>A	c.(523-525)Gga>Aga	p.G175R	CDCP1_ENST00000425231.2_Missense_Mutation_p.G175R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	175						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGAAGGTTCCGATCCTGACC	0.582000													75	30					0	0	0.003610	0	0
CD1E	913	broad.mit.edu	37	1	158325184	158325184	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158325184C>T	ENST00000444681.2	+	2	446	c.153C>T	c.(151-153)ttC>ttT	p.F51F	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Silent_p.F150F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Silent_p.F150F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Silent_p.F148F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Silent_p.F150F|CD1E_ENST00000368160.3_Silent_p.F150F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	150					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTGAGTTTCCAAGGAATTT	0.453000													19	77					0	0	0.007413	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168909	44168909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:44168909C>T	ENST00000262726.7	-	4	467	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000356087.4_Intron|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	72	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTCATCCCCTCTGTCGGTA	0.398000													21	71					0	0	0.001882	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895188	45895188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45895188G>A	ENST00000418234.2	-	8	1843	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P589S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	589	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGGGGGTGGAATGGGAGCT	0.667000													27	49					0	0	0.004656	0	0
SYCP2	10388	broad.mit.edu	37	20	58467646	58467646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:58467646G>A	ENST00000357552.3	-	23	2129	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S635L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	635					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.S635L(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCTCCTGACGAAGTACTTGC	0.318000													17	18					0	0	0.006122	0	0
CDS1	1040	broad.mit.edu	37	4	85562043	85562043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:85562043G>A	ENST00000295887.5	+	10	1355	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	311					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGGAATACCGAAGTGATGTA	0.398000													47	43					0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125316310	125316310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125316310G>A	ENST00000373688.2	+	1	920	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TACAGAGAGGGAAAGTAGGGC	0.443000													8	22					0	0	0.006214	0	0
PELP1	27043	broad.mit.edu	37	17	4577955	4577955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:4577955G>A	ENST00000301396.4	-	13	2089	c.1864C>T	c.(1864-1866)Ccg>Tcg	p.P622S	PELP1_ENST00000572293.1_Missense_Mutation_p.P528S|PELP1_ENST00000574876.1_Missense_Mutation_p.P478S|PELP1_ENST00000269230.7_Missense_Mutation_p.P476S|PELP1_ENST00000436683.2_Missense_Mutation_p.P331S			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	478					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCCCCGCGGGCTACGCAGC	0.582000													12	4					0	0	0.001855	0	0
OBSCN	84033	broad.mit.edu	37	1	228474643	228474643	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:228474643G>A	ENST00000570156.2	+	40	10808	c.10734G>A	c.(10732-10734)cgG>cgA	p.R3578R	OBSCN_ENST00000359599.6_Silent_p.R1996R|OBSCN_ENST00000366707.4_Silent_p.R268R|OBSCN_ENST00000284548.11_Silent_p.R3149R|OBSCN_ENST00000422127.1_Silent_p.R3149R|OBSCN_ENST00000366709.4_Silent_p.R268R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2611	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCCACCGGGCCCAGCTGC	0.657000													13	7					0	0	0.002450	0	0
ZNF229	7772	broad.mit.edu	37	19	44933871	44933871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44933871G>A	ENST00000291187.4	-	6	1389	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	ZNF229_ENST00000588931.1_Missense_Mutation_p.S362L|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGAAGAACCGATTTATACCT	0.498000													45	32					0	0	0.002852	0	0
ANXA11	311	broad.mit.edu	37	10	81917756	81917756	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:81917756G>A	ENST00000438331.1	-	15	1784	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	ANXA11_ENST00000372231.3_Silent_p.A434A|ANXA11_ENST00000360615.4_Silent_p.A434A|ANXA11_ENST00000537102.1_Silent_p.A401A|ANXA11_ENST00000535999.1_Silent_p.A434A|ANXA11_ENST00000422982.3_Silent_p.A434A|ANXA11_ENST00000265447.4_Silent_p.A434A	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	434					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCGCAAAGAAGGCTGGGGTAT	0.517000													12	34					0	0	0.001855	0	0
DCLK1	9201	broad.mit.edu	37	13	36348751	36348751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:36348751G>A	ENST00000360631.3	-	17	2355	c.2144C>T	c.(2143-2145)cCt>cTt	p.P715L	DCLK1_ENST00000379893.1_Missense_Mutation_p.P408L|DCLK1_ENST00000255448.4_3'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	715					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GAGTTCGGGAGGAGCTGGCTG	0.542000													4	6					0	0	0.000602	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547701	125547701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:125547701G>A	ENST00000431078.1	+	18	3336	c.2972G>A	c.(2971-2973)gGg>gAg	p.G991E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	991	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTATGAAGGGCCCTTTTGC	0.522000													8	11					0	0	0.003080	0	0
BAZ1B	9031	broad.mit.edu	37	7	72863880	72863880	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:72863880G>A	ENST00000339594.4	-	15	4058	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S	BAZ1B_ENST00000404251.1_Silent_p.S1240S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1240					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACCTGCCACGGGAGTTGCGCC	0.438000													43	17					0	0	0.002852	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000													9	9					0	0	0.004482	0	0
XDH	7498	broad.mit.edu	37	2	31572667	31572667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:31572667C>T	ENST00000379416.3	-	26	2902	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	952					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTGTCAGGTCCCCTTCTTTG	0.532000													33	38					0	0	0.002445	0	0
ADAM7	8756	broad.mit.edu	37	8	24349525	24349525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24349525G>A	ENST00000175238.6	+	14	1549	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	ADAM7_ENST00000380789.1_Missense_Mutation_p.G489E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G261E|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	489	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGGGTCAATGGATTTCCTTGC	0.483000													29	63					0	0	0.001512	0	0
INSL6	11172	broad.mit.edu	37	9	5185431	5185431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:5185431C>T	ENST00000381641.3	-	1	237	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	58						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAAGGGGTTTCCTCCTCGAAA	0.577000													67	20					0	0	0.003610	0	0
MYH10	4628	broad.mit.edu	37	17	8397081	8397081	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:8397081C>T	ENST00000360416.3	-	32	4317	c.4179G>A	c.(4177-4179)ctG>ctA	p.L1393L	MYH10_ENST00000396239.1_Silent_p.L1383L|MYH10_ENST00000269243.4_Silent_p.L1362L|MYH10_ENST00000379980.4_Silent_p.L1378L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1362					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTTGCTTCTCCAGGTTCTTCC	0.607000													37	7					0	0	0.004289	0	0
KALRN	8997	broad.mit.edu	37	3	123946845	123946845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:123946845C>T	ENST00000360013.3	+	2	203	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KALRN_ENST00000460856.1_Missense_Mutation_p.R26W|KALRN_ENST00000240874.3_Missense_Mutation_p.R26W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGTCTTTTCGGAATGATGG	0.483000													33	101					0	0	0.005524	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777484	18777484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:18777484C>T	ENST00000380548.4	+	19	3596	c.3257C>T	c.(3256-3258)tCc>tTc	p.S1086F		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1086						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAACCTCTCCCAGCAGCCC	0.672000													7	1					0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152409917	152409917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:152409917C>T	ENST00000427231.2	-	127	19928	c.19726G>A	c.(19726-19728)Gat>Aat	p.D6576N	NEB_ENST00000397345.3_Missense_Mutation_p.D6576N|NEB_ENST00000604864.1_Missense_Mutation_p.D6576N|NEB_ENST00000603639.1_Missense_Mutation_p.D6576N|NEB_ENST00000172853.10_Missense_Mutation_p.D4875N|NEB_ENST00000409198.1_Missense_Mutation_p.D4875N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4875	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCACATCATCACGTAGATCA	0.418000													12	33					0	0	0.000978	0	0
EGFL6	25975	broad.mit.edu	37	X	13636123	13636123	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:13636123A>T	ENST00000361306.1	+	8	1310	c.1053A>T	c.(1051-1053)aaA>aaT	p.K351N	EGFL6_ENST00000380602.3_Missense_Mutation_p.K351N	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	351					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GAGAAGAGAAAGCCCTGAAGA	0.383000													15	42					0	0	0.003163	0	0
HMG20B	10362	broad.mit.edu	37	19	3578055	3578055	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3578055C>T	ENST00000333651.6	+	9	960	c.885C>T	c.(883-885)ccC>ccT	p.P295P		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	295					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCGACCCCGCCCAGCACG	0.701000													24	7					0	0	0.003954	0	0
GNA11	2767	broad.mit.edu	37	19	3121120	3121120	+	Silent	SNP	C	C	T	rs140749796		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:3121120C>T	ENST00000078429.4	+	7	1265	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	341					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTTCGTGTTCGCGGCCGTGA	0.592000			Mis		uveal melanoma								8	16					0	0	0.003080	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965092	42965092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:42965092C>T	ENST00000399770.2	+	2	568	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	190	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CGAACGATGCCGACGAGTTTC	0.423000													16	71					0	0	0.006122	0	0
CEP120	153241	broad.mit.edu	37	5	122725653	122725653	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:122725653A>G	ENST00000306467.5	-	8	1524	c.1220T>C	c.(1219-1221)tTa>tCa	p.L407S	CEP120_ENST00000306481.6_Missense_Mutation_p.L381S|CEP120_ENST00000328236.5_Missense_Mutation_p.L407S			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	407						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATCATACTGTAAACTTTCCAC	0.383000													7	26					0	0	0.006214	0	0
MS4A8	83661	broad.mit.edu	37	11	60470895	60470895	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:60470895C>T	ENST00000300226.2	+	3	467	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		GCCTCGGCTCCATCATGGCGA	0.562000													14	25					0	0	0.003163	0	0
USP26	83844	broad.mit.edu	37	X	132161988	132161988	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:132161988G>A	ENST00000511190.1	-	6	730	c.261C>T	c.(259-261)tcC>tcT	p.S87S	USP26_ENST00000406273.1_Silent_p.S87S|USP26_ENST00000370832.1_Silent_p.S87S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	87					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CATCTGTGGAGGATAATCCTT	0.363000													13	6					0	0	0.001368	0	0
AHSG	197	broad.mit.edu	37	3	186338622	186338622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:186338622C>T	ENST00000411641.2	+	7	1226	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	AHSG_ENST00000273784.5_Missense_Mutation_p.P337L			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	336					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGTCGCACCCCCGGAAAACA	0.612000													39	26					0	0	0.004289	0	0
TRRAP	8295	broad.mit.edu	37	7	98581822	98581822	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98581822C>T	ENST00000359863.4	+	60	9350	c.9141C>T	c.(9139-9141)atC>atT	p.I3047I	TRRAP_ENST00000446306.3_Silent_p.I3018I|TRRAP_ENST00000355540.3_Silent_p.I3018I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3047	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGAAAAATCGCCCGGAAAC	0.438000													18	111					0	0	0.002299	0	0
OR10K2	391107	broad.mit.edu	37	1	158390474	158390474	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158390474G>A	ENST00000314902.2	-	1	182	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGGCAAGGAAGAAGTACATGG	0.478000													7	40					0	0	0.003080	0	0
LAIR1	3903	broad.mit.edu	37	19	54875923	54875923	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54875923G>T	ENST00000434277.2	-	2	239	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	LAIR1_ENST00000474878.1_Missense_Mutation_p.Q17K|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000391742.2_Missense_Mutation_p.Q17K|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Missense_Mutation_p.Q11K|LAIR1_ENST00000348231.4_Missense_Mutation_p.Q17K	NM_002287.3	NP_002278.1	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	17						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGGATGGTCTGGGCCAGGCAG	0.602000													10	43					2.17888e-05	2.77656e-05	0.006214	1	0
LOC100128164	100128164	broad.mit.edu	37	3	169664277	169664277	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:169664277G>A	ENST00000483289.2	-	0	3017				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TGTTGCACAGGATCTTGTTGT	0.517000													32	20					0	0	0.002096	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:90650488G>A	ENST00000282146.4	+	2	809	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000													32	66					0	0	0.004878	0	0
OR51B2	79345	broad.mit.edu	37	11	5345204	5345204	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5345204C>T	ENST00000328813.2	-	1	378	c.324G>A	c.(322-324)gtG>gtA	p.V108V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCTGATTCCACAACAGAAA	0.463000													5	12					0	0	0.000602	0	0
SATB1	6304	broad.mit.edu	37	3	18436089	18436089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:18436089C>T	ENST00000338745.6	-	7	2805	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.M357I|SATB1_ENST00000454909.2_Missense_Mutation_p.M357I	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	357					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAGGCTTATTCATAGATCTAC	0.488000													64	46					0	0	0.003610	0	0
TACC1	6867	broad.mit.edu	37	8	38696040	38696040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:38696040C>T	ENST00000379931.3	+	9	2307	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000330691.6_Missense_Mutation_p.T205I|TACC1_ENST00000443286.2_Missense_Mutation_p.T618I|TACC1_ENST00000518415.1_Missense_Mutation_p.T557I|TACC1_ENST00000276520.8_Missense_Mutation_p.T221I|TACC1_ENST00000520615.1_Missense_Mutation_p.T436I|TACC1_ENST00000519416.1_Missense_Mutation_p.T435I|TACC1_ENST00000317827.4_Missense_Mutation_p.T631I|TACC1_ENST00000348567.4_Missense_Mutation_p.T193I|TACC1_ENST00000520340.1_Missense_Mutation_p.T566I|TACC1_ENST00000520973.1_Missense_Mutation_p.T407I|TACC1_ENST00000520611.1_Missense_Mutation_p.T69I			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	631					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TACGAAGAGACCCGGCAAGAA	0.373000													33	22					0	0	0.004289	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375068	16375068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:16375068C>T	ENST00000375679.4	+	7	757	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGCAGCTCCCTTCAGCGG	0.647000													9	26					0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98560040	98560040	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:98560040C>T	ENST00000359863.4	+	46	7007	c.6798C>T	c.(6796-6798)tcC>tcT	p.S2266S	TRRAP_ENST00000446306.3_Silent_p.S2247S|TRRAP_ENST00000355540.3_Silent_p.S2248S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2266	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAATCCCTCCCAGCTCTTCG	0.567000													83	36					0	0	0.003610	0	0
IARS2	55699	broad.mit.edu	37	1	220284191	220284191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:220284191C>T	ENST00000366922.1	+	11	1506	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	IARS2_ENST00000302637.5_Missense_Mutation_p.P464L			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CATAGCTATCCGTATGACTGG	0.358000													13	27					0	0	0.003163	0	0
VPS13D	55187	broad.mit.edu	37	1	12317070	12317070	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12317070C>T	ENST00000358136.3	+	9	997	c.867C>T	c.(865-867)ttC>ttT	p.F289F	VPS13D_ENST00000356315.4_Silent_p.F289F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	289					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATGGAATTCCTCAAGGAGC	0.423000													35	35					0	0	0.003610	0	0
CXCR1	3577	broad.mit.edu	37	2	219028998	219028998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:219028998G>A	ENST00000295683.2	-	2	1057	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	313					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AATCCATGGCGAAAATTTTGG	0.527000													21	48					0	0	0.001523	0	0
GABRG3	2567	broad.mit.edu	37	15	27572069	27572069	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:27572069C>T	ENST00000333743.6	+	4	638	c.384C>T	c.(382-384)atC>atT	p.I128I	GABRG3_ENST00000555083.1_Silent_p.I128I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	128					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TAATCTGGATCCCAGACACCA	0.458000													16	76					0	0	0.003163	0	0
ZNF157	7712	broad.mit.edu	37	X	47272121	47272121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:47272121C>T	ENST00000377073.3	+	4	735	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	217					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGGGGAGAGGCCCTTTGAATG	0.443000													8	15					0	0	0.003080	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923887	56923887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:56923887G>A	ENST00000559237.1	-	21	3393	c.2710C>T	c.(2710-2712)Cat>Tat	p.H904Y	ZNF280D_ENST00000267807.7_Missense_Mutation_p.H917Y	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGTTCCAAATGAATACTGCCT	0.408000													15	79					0	0	0.003163	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	46					0	0	0.000248	0	0
NPY4R	5540	broad.mit.edu	37	10	47087776	47087776	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:47087776G>A	ENST00000374312.1	+	3	1412	c.993G>A	c.(991-993)aaG>aaA	p.K331K	NPY4R_ENST00000395716.1_Silent_p.K331K	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		ACTTCAAGAAGGAGATCAAGG	0.562000													11	58					0	0	0.000673	0	0
CCDC141	285025	broad.mit.edu	37	2	179701879	179701879	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179701879G>T	ENST00000420890.2	-	23	4184	c.4067C>A	c.(4066-4068)aCt>aAt	p.T1356N	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.T781N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	781							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTGGGTTTTAGTGAAGTTATT	0.493000													11	21					3.86212e-05	4.91e-05	0.000673	1	0
OXTR	5021	broad.mit.edu	37	3	8809153	8809153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:8809153C>T	ENST00000316793.3	-	3	1345	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	241					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCGCCTCGGCCGCCGCCGCT	0.672000													6	23					0	0	0.001168	0	0
NES	10763	broad.mit.edu	37	1	156641818	156641818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156641818G>A	ENST00000368223.3	-	4	2294	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	721	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTCTTCAGTGGCTCCTGGTT	0.448000													31	71					0	0	0.002096	0	0
SLC5A5	6528	broad.mit.edu	37	19	17983279	17983279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17983279G>A	ENST00000222248.3	+	1	498	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	51					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTTCACCGGGGGCCGGCGCCT	0.716000													4	16					0	0	0.000248	0	0
ABCB11	8647	broad.mit.edu	37	2	169825918	169825918	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:169825918G>A	ENST00000263817.6	-	16	2077	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	651	ABC transporter 1.|Interaction with HAX1 (By similarity).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACTAGAGTGAAGTAAACAC	0.408000													8	4					0	0	0.003080	0	0
CFHR4	10877	broad.mit.edu	37	1	196874340	196874340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:196874340G>A	ENST00000367416.2	+	3	493	c.356G>A	c.(355-357)gGa>gAa	p.G119E	CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGTAAACCAGGATATGCAACA	0.303000													9	33					0	0	0.004482	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626716	43626716	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:43626716G>A	ENST00000332857.6	-	4	1999	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCTCTAGCTGGAACTTCACCT	0.557000													89	25					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136548269	136548269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:136548269C>T	ENST00000264162.2	-	15	5304	c.5294G>A	c.(5293-5295)aGg>aAg	p.R1765K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1765	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTAGTAGATCCTTGCAGTGTC	0.502000													18	39					0	0	0.006122	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140181907C>T	ENST00000522353.2	+	1	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S375S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483000													35	39					0	0	0.002445	0	0
MYCBP2	23077	broad.mit.edu	37	13	77751993	77751993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:77751993G>A	ENST00000407578.2	-	35	5496	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P1706S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P1706S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTGCATCAGGGGACCCGTTC	0.418000													11	13					0	0	0.000673	0	0
FBXO24	26261	broad.mit.edu	37	7	100187615	100187615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100187615C>T	ENST00000241071.6	+	2	377	c.55C>T	c.(55-57)Cct>Tct	p.P19S	FBXO24_ENST00000360609.2_Missense_Mutation_p.P19S|FBXO24_ENST00000468962.1_Missense_Mutation_p.P7S|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.P19S|FBXO24_ENST00000427939.2_Missense_Mutation_p.P57S|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	19						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGAAGCTGCCCTTCTTGTGG	0.562000													78	42					0	0	0.003610	0	0
EPB41	2035	broad.mit.edu	37	1	29365861	29365861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:29365861C>T	ENST00000343067.4	+	11	1686	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	EPB41_ENST00000347529.3_Missense_Mutation_p.A485V|EPB41_ENST00000349460.4_Missense_Mutation_p.A311V|EPB41_ENST00000356093.2_Missense_Mutation_p.A520V|EPB41_ENST00000373797.1_Missense_Mutation_p.A520V|EPB41_ENST00000373798.1_Missense_Mutation_p.A520V|EPB41_ENST00000373800.3_Missense_Mutation_p.A311V|EPB41_ENST00000398863.2_Missense_Mutation_p.A520V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	520	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCAGGCAAGCTAGTGCTCTA	0.488000													7	44					0	0	0.001984	0	0
SERINC5	256987	broad.mit.edu	37	5	79498762	79498762	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:79498762G>A	ENST00000507668.2	-	2	288	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SERINC5_ENST00000509193.1_Silent_p.V46V|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Silent_p.V46V|SERINC5_ENST00000512721.1_Silent_p.V46V	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	46					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AGAGGACGACGACCAGAATGA	0.537000													5	9					0	0	0.000602	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:39597622C>T	ENST00000331256.5	+	12	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000													22	11					0	0	0.001882	0	0
HUNK	30811	broad.mit.edu	37	21	33340639	33340639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:33340639C>T	ENST00000270112.2	+	6	1312	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	318	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACTGGCGAATCGCTGGCTTAA	0.527000													24	41					0	0	0.002780	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444289	5444289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:5444289C>T	ENST00000300778.4	+	1	949	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCACCCCCGGTGATGAA	0.448000													12	18					0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61835462	61835462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:61835462G>A	ENST00000280772.1	-	37	5368	c.5177C>T	c.(5176-5178)cCa>cTa	p.P1726L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1726	Ser-rich.			P -> A (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGGATGATGGATATTTTAG	0.423000													14	17					0	0	0.002450	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468227	66468227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:66468227C>T	ENST00000533211.1	-	17	3674	c.3343G>A	c.(3343-3345)Gag>Aag	p.E1115K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1115K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1115K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1115					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGGGCCCGCTCCACCTCTCCC	0.692000													5	7					0	0	0.000602	0	0
GRM3	2913	broad.mit.edu	37	7	86479781	86479781	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:86479781A>G	ENST00000439827.1	+	4	1591	c.1420A>G	c.(1420-1422)Acc>Gcc	p.T474A	GRM3_ENST00000536043.1_Silent_p.Q701Q|GRM3_ENST00000361669.2_Silent_p.Q829Q|GRM3_ENST00000546348.1_Silent_p.Q421Q|GRM3_ENST00000394720.2_Missense_Mutation_p.T472A			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGTTTCAACCCCAGAAGA	0.493000													7	27					0	0	0.001984	0	0
CERKL	375298	broad.mit.edu	37	2	182403982	182403982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:182403982G>A	ENST00000410087.3	-	12	1475	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	CERKL_ENST00000339098.5_Missense_Mutation_p.P485S|CERKL_ENST00000409440.3_Missense_Mutation_p.P441S|CERKL_ENST00000374970.2_Missense_Mutation_p.P390S|CERKL_ENST00000374969.2_Missense_Mutation_p.P346S	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCAACAAATGGAAAATTGAAC	0.353000													12	21					0	0	0.001368	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756999	56756999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:56756999G>A	ENST00000326855.2	+	1	653	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTCTTTGTGGGATCTAACTTG	0.408000													32	37					0	0	0.002445	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348960	47348960	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47348960C>T	ENST00000505841.1	-	0	503					NR_002788.2																						TGTGTTCCTCCCATTTGTTCT	0.468000													12	14					0	0	0.002450	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			119	30					0	0	0.003610	0	0
ZNF91	7644	broad.mit.edu	37	19	23542334	23542334	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:23542334A>G	ENST00000300619.7	-	4	3652	c.3447T>C	c.(3445-3447)ctT>ctC	p.L1149L	ZNF91_ENST00000397082.2_Silent_p.L1117L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1149						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGGTTAGTAAGGATTGAAG	0.443000													5	29					0	0	0.000602	0	0
CHRM1	1128	broad.mit.edu	37	11	62678024	62678024	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62678024G>A	ENST00000306960.3	-	2	1090	c.549C>T	c.(547-549)ctC>ctT	p.L183L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	183					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TGGGCTGGGAGAGGAACTGGA	0.592000													7	16					0	0	0.001984	0	0
DKC1	1736	broad.mit.edu	37	X	153995569	153995569	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153995569C>T	ENST00000369550.5	+	7	762	c.552C>T	c.(550-552)ccC>ccT	p.P184P		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	184					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCAGCGACCCCCACTTATTG	0.448000									Congenital Dyskeratosis				53	131					0	0	0.003610	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:15739113G>A	ENST00000441682.2	+	0	1178							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000													23	92					0	0	0.003954	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:52321411G>A	ENST00000356297.4	-	17	2873	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P925S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000													10	27					0	0	0.006214	0	0
ILDR1	286676	broad.mit.edu	37	3	121712464	121712464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:121712464G>A	ENST00000273691.3	-	6	1105	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	ILDR1_ENST00000462014.1_Nonsense_Mutation_p.Q346*|ILDR1_ENST00000393631.1_Nonsense_Mutation_p.Q289*|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.Q378*	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	378						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGAGCTCCTGGTGGAAATCA	0.602000													33	31					0	0	0.004289	0	0
KRT6B	3854	broad.mit.edu	37	12	52842698	52842698	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:52842698G>A	ENST00000252252.3	-	6	1178	c.1131C>T	c.(1129-1131)acC>acT	p.T377T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	377	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTCCTGCTTGGTGTTGCGCA	0.552000													42	7					0	0	0.002222	0	0
SPAG1	6674	broad.mit.edu	37	8	101206344	101206344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:101206344C>T	ENST00000388798.2	+	10	1135	c.944C>T	c.(943-945)aCc>aTc	p.T315I	SPAG1_ENST00000251809.3_Missense_Mutation_p.T315I|SPAG1_ENST00000520643.1_Missense_Mutation_p.T315I|SPAG1_ENST00000520508.1_Missense_Mutation_p.T315I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	315					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTGCAGAAAACCTTGTCAGAG	0.303000													12	8					0	0	0.001855	0	0
SPTA1	6708	broad.mit.edu	37	1	158622263	158622263	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:158622263G>A	ENST00000368148.3	-	23	3549	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F	SPTA1_ENST00000368147.3_Silent_p.F1123F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1123					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTTTTGGAACTCATCAA	0.393000													12	29					0	0	0.001368	0	0
C10orf10	11067	broad.mit.edu	37	10	45473430	45473430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:45473430C>T	ENST00000298295.3	-	2	266	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	17						mitochondrion				lung(1)	1						TCCGTGGTCTCCCGAATTGTG	0.612000													18	53					0	0	0.001216	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618135	28618135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28618135C>T	ENST00000395609.1	-	8	1299	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SULT1A1_ENST00000395607.1_Missense_Mutation_p.E181K|SULT1A1_ENST00000350842.4_Missense_Mutation_p.E103K|SULT1A1_ENST00000569554.1_Missense_Mutation_p.E181K|SULT1A1_ENST00000314752.7_Missense_Mutation_p.E181K			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	181				E -> G (in Ref. 5; CAA59147).	3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CGGCTCAGCTCCCACCACTCC	0.602000													45	216					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318674	79318674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79318674C>T	ENST00000428286.1	-	9	7978	c.6778G>A	c.(6778-6780)Gat>Aat	p.D2260N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2619N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2619					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTCGTATCGCTTTTAGAA	0.483000													31	5					0	0	0.007291	0	0
HTR1F	3355	broad.mit.edu	37	3	88040303	88040303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:88040303G>A	ENST00000319595.4	+	1	458	c.404G>A	c.(403-405)aGg>aAg	p.R135K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCCAGGAAAAGGACTCCAAAG	0.438000													13	37					0	0	0.001855	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402414	47402414	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47402414C>T	ENST00000310638.4	-	4	463	c.432G>A	c.(430-432)cgG>cgA	p.R144R	CYP4A11_ENST00000371905.1_Silent_p.R144R|CYP4A11_ENST00000371904.4_Silent_p.R144R|CYP4A11_ENST00000457840.2_Silent_p.R40R|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGTCAGCATCCGTCGATGCT	0.527000													10	16					0	0	0.000978	0	0
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R344R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567000													44	176					0	0	0.003214	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185268	127185268	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:127185268G>A	ENST00000371124.3	-	1	1114	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	306						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCCCAGGGAGGAGAGTGGTGC	0.498000													37	36					0	0	0.003755	0	0
AKAP6	9472	broad.mit.edu	37	14	33293351	33293351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:33293351C>T	ENST00000280979.4	+	13	6502	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTTTTATTCGTACTTATCT	0.463000													17	41					0	0	0.004990	0	0
C10orf90	118611	broad.mit.edu	37	10	128147617	128147617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:128147617G>A	ENST00000284694.7	-	6	2009	c.1889C>T	c.(1888-1890)cCt>cTt	p.P630L	C10orf90_ENST00000454341.1_Missense_Mutation_p.P533L|C10orf90_ENST00000544758.1_Missense_Mutation_p.P727L|C10orf90_ENST00000356858.3_Missense_Mutation_p.P583L|C10orf90_ENST00000480379.1_Missense_Mutation_p.P34L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	630										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACCACTCAGAGGATGGGGAAT	0.582000													12	14					0	0	0.001855	0	0
NME8	51314	broad.mit.edu	37	7	37907333	37907333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:37907333G>A	ENST00000199447.4	+	11	1023	c.651G>A	c.(649-651)atG>atA	p.M217I	NME8_ENST00000440017.1_Missense_Mutation_p.M217I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	217	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTCTTTTATGACAAGTGGCT	0.403000													23	15					0	0	0.003330	0	0
RBM25	58517	broad.mit.edu	37	14	73578360	73578360	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:73578360C>T	ENST00000261973.7	+	16	2427	c.2142C>T	c.(2140-2142)ccC>ccT	p.P714P	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.P714P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	714					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AACTGGTTCCCTTGGATTATG	0.378000													19	64					0	0	0.001216	0	0
ZNF556	80032	broad.mit.edu	37	19	2877858	2877858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:2877858C>T	ENST00000586426.1	+	4	986	c.899C>T	c.(898-900)tCc>tTc	p.S300F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S301F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAACATCCTTTCAACGA	0.507000													11	29					0	0	0.000978	0	0
C19orf26	255057	broad.mit.edu	37	19	1231200	1231200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:1231200G>A	ENST00000590083.1	-	9	1346	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	C19orf26_ENST00000215376.6_Missense_Mutation_p.P346S|C19orf26_ENST00000382477.2_Missense_Mutation_p.P372S			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	372						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTGGGGGGCATCCCCC	0.711000										HNSCC(14;0.022)			38	24					0	0	0.006230	0	0
RPTN	126638	broad.mit.edu	37	1	152127734	152127734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152127734C>T	ENST00000316073.3	-	3	1905	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	614	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGATCTTCCTGATTGTTC	0.478000													45	45					0	0	0.003214	0	0
TRGC2	6967	broad.mit.edu	37	7	38279703	38279703	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:38279703C>T	ENST00000436911.2	-	0	490																											AGACCACACTCTTGAGGAGCA	0.453000													6	25					0	0	0.004482	0	0
WNT10B	7480	broad.mit.edu	37	12	49359897	49359897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:49359897C>T	ENST00000301061.4	-	5	1499	c.1151G>A	c.(1150-1152)tGg>tAg	p.W384*	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	384					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CACATTCACCCACTCTGTAAC	0.567000													31	6					0	0	0.002836	0	0
CENPI	2491	broad.mit.edu	37	X	100382643	100382643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:100382643C>T	ENST00000372927.1	+	10	1340	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	CENPI_ENST00000423383.1_Missense_Mutation_p.H355Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H355Y|CENPI_ENST00000372926.1_Missense_Mutation_p.H355Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	355					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ACAGAACATCCATTGCTTAGA	0.343000													40	50					0	0	0.003610	0	0
ULK2	9706	broad.mit.edu	37	17	19684407	19684407	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:19684407G>T	ENST00000395544.4	-	24	3149	c.2650C>A	c.(2650-2652)Cag>Aag	p.Q884K	ULK2_ENST00000361658.2_Missense_Mutation_p.Q884K	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	884					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AACACCAGCTGCTCCACCCGC	0.502000													6	3					0.000157383	0.000199897	0.003080	1	0
F8	2157	broad.mit.edu	37	X	154159085	154159085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154159085C>T	ENST00000360256.4	-	14	3180	c.2980G>A	c.(2980-2982)Ggg>Agg	p.G994R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	994	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTTTTCCCTTTAAATAAC	0.333000													23	31					0	0	0.005443	0	0
LRCH2	57631	broad.mit.edu	37	X	114347894	114347894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:114347894C>T	ENST00000317135.8	-	21	2213	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	LRCH2_ENST00000538422.1_Missense_Mutation_p.R711K	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	728	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAACAAAGTCTTTCCTGGAG	0.328000													6	16					0	0	0.001168	0	0
CTSG	1511	broad.mit.edu	37	14	25043014	25043014	+	Silent	SNP	C	C	T	rs139142097		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:25043014C>T	ENST00000216336.2	-	5	633	c.597G>A	c.(595-597)ggG>ggA	p.G199G		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	199	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CTCCGGAATCCCCCTGTAGGT	0.617000													28	63					0	0	0.001512	0	0
DIS3	22894	broad.mit.edu	37	13	73335651	73335651	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:73335651G>A	ENST00000377767.4	-	19	2620	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	DIS3_ENST00000545453.1_Silent_p.F678F|DIS3_ENST00000377780.4_Silent_p.F810F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	840					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTTGCTTTTGAAGAATAACT	0.234000										Multiple Myeloma(4;0.011)			9	31					0	0	0.004482	0	0
NCAPD2	9918	broad.mit.edu	37	12	6636077	6636077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:6636077C>T	ENST00000315579.5	+	22	3554	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	NCAPD2_ENST00000545962.1_Missense_Mutation_p.P874S|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	919					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CGCAATGCTCCCCACTTTCCT	0.562000													35	26					0	0	0.006230	0	0
TFPI2	7980	broad.mit.edu	37	7	93519937	93519937	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:93519937C>T	ENST00000222543.5	-	1	366	c.54G>A	c.(52-54)gaG>gaA	p.E18E	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.E18E	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	18					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CCAGTGCAGCCTCCGTCAGGA	0.701000													8	43					0	0	0.004482	0	0
YWHAG	7532	broad.mit.edu	37	7	75959211	75959211	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:75959211T>C	ENST00000307630.3	-	2	649	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	143					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						ACCGTCGCCCTTTTCTCTCCG	0.577000													4	162					0	0	0.000248	0	0
KLK7	5650	broad.mit.edu	37	19	51480889	51480889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51480889C>T	ENST00000391807.1	-	6	766	c.665G>A	c.(664-666)gGa>gAa	p.G222E	KLK7_ENST00000336317.4_Missense_Mutation_p.G109E|KLK7_ENST00000597707.1_Missense_Mutation_p.G150E|KLK7_ENST00000595820.1_Missense_Mutation_p.G222E|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	222	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGAAAGTTCCCCAGGACAC	0.522000													9	32					0	0	0.004482	0	0
GNAI2	2771	broad.mit.edu	37	3	50293704	50293704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:50293704C>T	ENST00000313601.6	+	5	929	c.545C>T	c.(544-546)aCc>aTc	p.T182I	GNAI2_ENST00000440628.1_Missense_Mutation_p.T130I|GNAI2_ENST00000422163.1_Missense_Mutation_p.T166I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.T101I|GNAI2_ENST00000451956.1_Missense_Mutation_p.T145I|GNAI2_ENST00000266027.5_Missense_Mutation_p.T166I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	182					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CGCGTAAAGACCACGGGGATC	0.597000													27	19					0	0	0.006320	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767491	31767491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:31767491C>T	ENST00000240587.4	-	2	3535	c.3208G>A	c.(3208-3210)Gac>Aac	p.D1070N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1070					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGAAGGTGGTCTTCCGGAGAT	0.468000													20	59					0	0	0.002780	0	0
GNL1	2794	broad.mit.edu	37	6	30520350	30520350	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30520350C>T	ENST00000376621.3	-	8	1963	c.993G>A	c.(991-993)gaG>gaA	p.E331E		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	331					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGGCCATCCTCCTCTTCCT	0.602000													26	33					0	0	0.003954	0	0
TICAM1	148022	broad.mit.edu	37	19	4817010	4817010	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4817010G>A	ENST00000248244.5	-	2	1609	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	460	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.F460F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCGACAGTCGAAGTTGGAGG	0.607000													15	56					0	0	0.007413	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770654	51770654	+	Silent	SNP	G	G	A	rs147370216	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51770654G>A	ENST00000316401.7	+	5	819	c.438G>A	c.(436-438)gcG>gcA	p.A146A	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Silent_p.A52A	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.A146A(1)									AGAAGCAGGCGAAGAAAGCTG	0.468000													19	76					0	0	0.001523	0	0
PRKCG	5582	broad.mit.edu	37	19	54410031	54410031	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54410031G>T	ENST00000263431.3	+	18	2258	c.1976G>T	c.(1975-1977)cGc>cTc	p.R659L	PRKCG_ENST00000542049.1_Missense_Mutation_p.R510L|PRKCG_ENST00000540413.1_Missense_Mutation_p.R659L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	659	AGC-kinase C-terminal.		R -> S.		activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCAGACCGCCTAGTCCTG	0.652000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	68					7.87624e-14	1.01032e-13	0.002780	1	0
DNAH3	55567	broad.mit.edu	37	16	20974997	20974997	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20974997C>T	ENST00000261383.3	-	53	10208	c.10209G>A	c.(10207-10209)ctG>ctA	p.L3403L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3403					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGGTTATCCAGTGCGATGC	0.532000													17	30					0	0	0.007413	0	0
FAT4	79633	broad.mit.edu	37	4	126372220	126372220	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126372220A>G	ENST00000394329.3	+	9	10062	c.10049A>G	c.(10048-10050)aAg>aGg	p.K3350R	FAT4_ENST00000335110.5_Missense_Mutation_p.K1648R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3350	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATCAATAAGAAGACTGGA	0.413000													29	27					0	0	0.007291	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237154	30237154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:30237154C>T	ENST00000378988.4	+	2	558	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	153	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCCTGAGATCCTCAAGAAAGC	0.453000													4	12					0	0	0.000602	0	0
OTOL1	131149	broad.mit.edu	37	3	161221723	161221723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:161221723C>T	ENST00000327928.4	+	4	1427	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	476						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTGGAATTTCACCATAAATT	0.373000													14	5					0	0	0.002450	0	0
F8	2157	broad.mit.edu	37	X	154158173	154158173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154158173C>T	ENST00000360256.4	-	14	4092	c.3892G>A	c.(3892-3894)Ggc>Agc	p.G1298S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1298	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCCAAGCCTTCCAAGTTT	0.368000													23	37					0	0	0.001882	0	0
METTL21A	151194	broad.mit.edu	37	2	208488982	208488982	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:208488982G>C	ENST00000411432.1	-	2	334	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	METTL21A_ENST00000425132.1_Missense_Mutation_p.L40V|METTL21A_ENST00000406927.2_Missense_Mutation_p.L40V|METTL21A_ENST00000272839.3_Missense_Mutation_p.L40V|METTL21A_ENST00000426075.1_Missense_Mutation_p.L40V|METTL21A_ENST00000432416.1_Missense_Mutation_p.L40V|METTL21A_ENST00000458426.1_Missense_Mutation_p.L40V|METTL21A_ENST00000448007.2_Missense_Mutation_p.L40V|METTL21A_ENST00000442521.1_Missense_Mutation_p.L40V|METTL21A_ENST00000448823.2_Missense_Mutation_p.L40V	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	40						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCGACTCCCAGGTGTCTCCAG	0.483000													34	64					0	0	0.004878	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307825	39307825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:39307825C>T	ENST00000541347.1	-	2	415	c.176G>A	c.(175-177)aGc>aAc	p.S59N	CX3CR1_ENST00000358309.3_Missense_Mutation_p.S91N|CX3CR1_ENST00000542107.1_Missense_Mutation_p.S59N|CX3CR1_ENST00000399220.2_Missense_Mutation_p.S59N	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	59					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGCTTCTTGCTGTTGGTGAG	0.483000													43	26					0	0	0.002222	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:69058566C>T	ENST00000288368.4	+	34	4487	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000													11	15					0	0	0.000978	0	0
TSIX	9383	broad.mit.edu	37	X	73042618	73042618	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:73042618G>A	ENST00000604411.1	+	0	30579				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCGTATGAACGAAAAAATAAA	0.343000													16	28					0	0	0.004007	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967418	142967418	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:142967418C>T	ENST00000370494.1	+	1	246	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	72							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTACGTTTCATGACCAAAA	0.418000													30	34					0	0	0.002836	0	0
PTPRN	5798	broad.mit.edu	37	2	220172277	220172277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220172277C>T	ENST00000295718.2	-	3	409	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.G57S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	57					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCAAACAAGCCATCTAAGGGC	0.552000													16	36					0	0	0.003163	0	0
NPSR1	387129	broad.mit.edu	37	7	34889218	34889218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:34889218G>A	ENST00000360581.1	+	9	1195	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	NPSR1_ENST00000381542.1_Missense_Mutation_p.R290K|NPSR1_ENST00000381539.3_Silent_p.E389E|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	356						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCCGGGAGAGAACTGAGAGG	0.488000													31	71					0	0	0.005524	0	0
ITGA8	8516	broad.mit.edu	37	10	15614275	15614275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:15614275G>A	ENST00000378076.3	-	25	2925	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	858					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTTGAATATGGAAAATATAG	0.443000													10	41					0	0	0.000673	0	0
PEAK1	79834	broad.mit.edu	37	15	77425613	77425613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:77425613G>A	ENST00000560626.2	-	6	4286	c.3811C>T	c.(3811-3813)Ccg>Tcg	p.P1271S	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1271S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1271					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTCTCTGCGGCTTCTGGATG	0.502000													50	34					0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31572668	31572668	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:31572668C>T	ENST00000379416.3	-	26	2901	c.2853G>A	c.(2851-2853)ggG>ggA	p.G951G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	951					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGTCAGGTCCCCTTCTTTGT	0.532000													32	38					0	0	0.002096	0	0
FRMPD3	84443	broad.mit.edu	37	X	106797636	106797636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106797636C>T	ENST00000276185.4	+	9	763	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	255	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GACACACTATCATGGAATGAA	0.512000													7	12					0	0	0.004482	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605952	116605952	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:116605952C>T	ENST00000369248.4	+	10	1559	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	FAM160B1_ENST00000369250.3_Silent_p.L408L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	408			L -> I (in dbSNP:rs17853717).							NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGGGTATTCTCACATCCACTG	0.433000													54	50					0	0	0.003610	0	0
BACH1	571	broad.mit.edu	37	21	30693736	30693736	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:30693736C>T	ENST00000399921.1	+	2	378	c.135C>T	c.(133-135)ttC>ttT	p.F45F	BACH1_ENST00000286800.3_Silent_p.F45F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	45	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACAGCGGTTCCGCGCTCACC	0.522000													11	42					0	0	0.000978	0	0
CPS1	1373	broad.mit.edu	37	2	211540509	211540509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:211540509C>T	ENST00000233072.5	+	36	4415	c.4219C>T	c.(4219-4221)Cca>Tca	p.P1407S	CPS1_ENST00000430249.2_Missense_Mutation_p.P1413S|CPS1_ENST00000451903.2_Missense_Mutation_p.P956S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1407					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCTGCCACCCCAGTGGCATG	0.438000													24	31					0	0	0.007291	0	0
ZNF467	168544	broad.mit.edu	37	7	149467625	149467625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:149467625C>T	ENST00000302017.3	-	3	468	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZNF467_ENST00000484747.1_Missense_Mutation_p.E19K	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCCATCTCTGGCTGTCCC	0.557000													66	32					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032373	10032373	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:10032373G>A	ENST00000396573.2	-	4	759	c.450C>T	c.(448-450)tcC>tcT	p.S150S	GRIN2A_ENST00000404927.2_Silent_p.S150S|GRIN2A_ENST00000396575.2_Silent_p.S150S|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000562109.1_Silent_p.S150S|GRIN2A_ENST00000330684.3_Silent_p.S150S|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	150					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S150S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGCTGGATGGACGCTCCAA	0.488000													23	24					0	0	0.003954	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890238	156890238	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156890238C>T	ENST00000311946.7	+	2	476	c.360C>T	c.(358-360)atC>atT	p.I120I	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.I120I	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	120						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCTTCTACATCGGCCTGGGCC	0.572000													36	32					0	0	0.004289	0	0
MYO1B	4430	broad.mit.edu	37	2	192206274	192206274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:192206274C>T	ENST00000392318.3	+	5	681	c.434C>T	c.(433-435)tCc>tTc	p.S145F	MYO1B_ENST00000304164.4_Missense_Mutation_p.S145F|MYO1B_ENST00000339514.4_Missense_Mutation_p.S145F|MYO1B_ENST00000392316.1_Missense_Mutation_p.S145F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	145	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTTTTACAGTCCAACCCGGTC	0.443000													18	39					0	0	0.007413	0	0
IFIH1	64135	broad.mit.edu	37	2	163144699	163144699	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:163144699T>C	ENST00000263642.2	-	5	1436	c.1041A>G	c.(1039-1041)ttA>ttG	p.L347L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	347	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCTTCTTGTCTAAGTGATCCT	0.398000													7	23					0	0	0.001984	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704456	41704456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:41704456G>A	ENST00000310054.4	+	4	799	c.583G>A	c.(583-585)Gat>Aat	p.D195N	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	195					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTCCTATGAGGATAAGGAGTT	0.642000													20	100					0	0	0.001882	0	0
ATR	545	broad.mit.edu	37	3	142212099	142212099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:142212099G>A	ENST00000350721.4	-	35	6074	c.5953C>T	c.(5953-5955)Cct>Tct	p.P1985S	ATR_ENST00000383101.3_Missense_Mutation_p.P1921S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1985	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCATTTTCAGGAAAACATAAT	0.368000								Other conserved DNA damage response genes					6	23					0	0	0.003080	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603128	140603128	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140603128C>T	ENST00000239449.4	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		17					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTAATATTCCTTGTTTTGC	0.458000													14	17					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13717604	13717604	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:13717604C>T	ENST00000265104.4	-	73	12629	c.12525G>A	c.(12523-12525)gtG>gtA	p.V4175V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4175	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCAGAGCTCACGTCCAGCA	0.498000									Kartagener syndrome				12	16					0	0	0.001855	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751815	62751815	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:62751815G>A	ENST00000377871.3	-	1	614	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SLC22A6_ENST00000458333.2_Silent_p.F116F|SLC22A6_ENST00000360421.4_Silent_p.F116F|SLC22A6_ENST00000421062.2_Silent_p.F116F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	116					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTAGATGGGAAGGTGCTGT	0.552000													15	29					0	0	0.004990	0	0
OR1N1	138883	broad.mit.edu	37	9	125289031	125289031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125289031G>A	ENST00000304880.2	-	1	541	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTTCAGGACAGGAGTGATGTC	0.493000													19	3					0	0	0.001523	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249499	123249499	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:123249499T>C	ENST00000264501.4	+	66	11609	c.11236T>C	c.(11236-11238)Tac>Cac	p.Y3746H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y3746H			Q2LD37	K1109_HUMAN	KIAA1109	3746					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTTATATTTACAGGAAACC	0.363000													7	12					0	0	0.001984	0	0
PIGS	94005	broad.mit.edu	37	17	26887181	26887181	+	Silent	SNP	G	G	A	rs35420088		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:26887181G>A	ENST00000308360.7	-	7	1080	c.705C>T	c.(703-705)aaC>aaT	p.N235N	PIGS_ENST00000395346.2_Silent_p.N227N|PIGS_ENST00000543734.1_Silent_p.N174N|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	235					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TGGGGTCTGGGTTGAGTAAAC	0.547000													45	4					0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82836397	82836397	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:82836397G>A	ENST00000265077.3	+	8	8140	c.7575G>A	c.(7573-7575)agG>agA	p.R2525R	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.R1538R|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2525	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCGTTTCAGGGAATTCGAGG	0.398000													9	12					0	0	0.004482	0	0
LMTK2	22853	broad.mit.edu	37	7	97833287	97833287	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:97833287C>T	ENST00000297293.5	+	13	4565	c.4272C>T	c.(4270-4272)tcC>tcT	p.S1424S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1424					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGACTTCTCCCCAGATCCTT	0.507000													36	171					0	0	0.004878	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218276	57218276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:57218276G>A	ENST00000396721.2	-	5	714	c.584C>T	c.(583-585)cCt>cTt	p.P195L	SDR16C5_ENST00000303749.3_Missense_Mutation_p.P239L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.P239L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	239					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACAGAGAAGGACAGCTAGG	0.294000													20	18					0	0	0.001882	0	0
CCR3	1232	broad.mit.edu	37	3	46306776	46306776	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:46306776C>T	ENST00000357422.2	+	4	670	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	CCR3_ENST00000395940.2_Silent_p.L43L|CCR3_ENST00000545097.1_Silent_p.L64L|CCR3_ENST00000395942.2_Silent_p.L43L|CCR3_ENST00000541018.1_Silent_p.L43L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	43					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGTACTCCCTGGTGTTCAC	0.517000													5	26					0	0	0.000602	0	0
ALAS2	212	broad.mit.edu	37	X	55047648	55047648	+	Missense_Mutation	SNP	C	C	T	rs137852308		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55047648C>T	ENST00000330807.5	-	5	612	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ALAS2_ENST00000335854.4_Missense_Mutation_p.D122N|ALAS2_ENST00000396198.3_Missense_Mutation_p.D146N	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	159			D -> Y (in XLSA).		cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGTGTGATCCTGTTTCTTC	0.453000													36	23					0	0	0.006230	0	0
LMX1A	4009	broad.mit.edu	37	1	165183025	165183025	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:165183025G>A	ENST00000342310.3	-	5	904	c.522C>T	c.(520-522)ctC>ctT	p.L174L	LMX1A_ENST00000294816.2_Silent_p.L174L|LMX1A_ENST00000367893.4_Silent_p.L174L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGACTTGCAGAGACTTTCTT	0.488000													22	70					0	0	0.003954	0	0
IL2RA	3559	broad.mit.edu	37	10	6066267	6066267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:6066267C>T	ENST00000379959.3	-	3	480	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	IL2RA_ENST00000379954.1_Missense_Mutation_p.E103K|IL2RA_ENST00000256876.6_Missense_Mutation_p.E103K	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	103					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTTTTCCTTTCTTTCTGTTCT	0.448000													9	11					0	0	0.001368	0	0
MORC1	27136	broad.mit.edu	37	3	108819338	108819338	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108819338G>A	ENST00000232603.5	-	5	322	c.240C>T	c.(238-240)atC>atT	p.I80I	MORC1_ENST00000483760.1_Silent_p.I80I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	80					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAAGTAAATGATGTCTGAAG	0.433000													40	30					0	0	0.003610	0	0
DDX28	55794	broad.mit.edu	37	16	68055780	68055780	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:68055780G>A	ENST00000332395.5	-	1	1990	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCTTCTGGAAGGACTGGAAGA	0.517000													19	9					0	0	0.001216	0	0
DNAJC17	55192	broad.mit.edu	37	15	41068815	41068815	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:41068815G>A	ENST00000220496.4	-	5	336	c.306C>T	c.(304-306)gcC>gcT	p.A102A		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	102					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCCGCTCCCGGGCCTCCAGGT	0.627000													14	97					0	0	0.002780	0	0
CLSTN3	9746	broad.mit.edu	37	12	7301721	7301721	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:7301721C>T	ENST00000537408.1	+	12	2575	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	CLSTN3_ENST00000266546.6_Silent_p.F667F			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	667					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCCCTTTGTTCCCTGATCTTC	0.567000													14	14					0	0	0.004007	0	0
OTOF	9381	broad.mit.edu	37	2	26707409	26707409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26707409C>T	ENST00000272371.2	-	12	1264	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	OTOF_ENST00000403946.3_Missense_Mutation_p.V380M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	380					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTTGCCCACCACGGCAACG	0.592000													19	24					0	0	0.001216	0	0
POU2F3	25833	broad.mit.edu	37	11	120170364	120170364	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:120170364T>C	ENST00000260264.4	+	5	330	c.296T>C	c.(295-297)cTt>cCt	p.L99P	POU2F3_ENST00000543440.2_Missense_Mutation_p.L97P	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	97					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCCAGCAGCTTGTGCTGGTT	0.562000											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	21					0	0	0.000673	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507296	98507296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98507296C>T	ENST00000265261.6	+	8	813	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.P249S|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.P249S	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	249					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAAGTGTTTCCCAAAAATCA	0.373000													7	56					0	0	0.003080	0	0
C15orf43	145645	broad.mit.edu	37	15	45270688	45270688	+	Splice_Site	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45270688T>G	ENST00000340827.3	+	7	542	c.523_splice	c.e7-1	p.G175_splice		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	175										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ATTTTGTAGGTTATATATCAA	0.299000													16	42					0	0	0.006122	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398709	47398709	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:47398709G>A	ENST00000310638.4	-	10	1264	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	CYP4A11_ENST00000371905.1_Silent_p.V411V|CYP4A11_ENST00000371904.4_Silent_p.V412V|CYP4A11_ENST00000475477.1_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	411				MVL -> TVM (in Ref. 9; CAA50586).	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGAGAGGAGGACCATGATAC	0.517000													92	81					0	0	0.003610	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223949	42223949	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:42223949C>T	ENST00000221992.6	+	7	1707	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	CEACAM5_ENST00000405816.1_Silent_p.T531T|CEACAM5_ENST00000398599.4_Silent_p.T530T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	531	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAACACAACCTACCTGTGGT	0.552000													17	76					0	0	0.006122	0	0
GABRB2	2561	broad.mit.edu	37	5	160753448	160753448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:160753448C>T	ENST00000274547.2	-	10	1335	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R373Q|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	373					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ccacaaggatcgatattgggt	0.383000													13	13					0	0	0.003163	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733378	106733378	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:106733378G>A	ENST00000390610.2	-	0	176																											CCTTGCAGGAGACCTTCACTG	0.577000													49	109					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170145580	170145580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:170145580G>A	ENST00000263816.3	-	9	1283	c.998C>T	c.(997-999)cCc>cTc	p.P333L	LRP2_ENST00000443831.1_Missense_Mutation_p.P333L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	333	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAACCTGGGGGACAAAAACA	0.493000													28	50					0	0	0.006320	0	0
ZEB1	6935	broad.mit.edu	37	10	31810494	31810494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:31810494G>A	ENST00000446923.2	+	7	2574	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.G745E|ZEB1_ENST00000560721.2_Missense_Mutation_p.G724E|ZEB1_ENST00000320985.10_Missense_Mutation_p.G744E|ZEB1_ENST00000542815.3_Missense_Mutation_p.G677E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	744					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGCAACAGGGAGAATTATTA	0.428000													16	15					0	0	0.004990	0	0
IQCF3	401067	broad.mit.edu	37	3	51864696	51864696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:51864696C>T	ENST00000456080.1	+	8	1509	c.344C>T	c.(343-345)gCt>gTt	p.A115V	IQCF3_ENST00000444293.1_Silent_p.C78C|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000440739.2_Missense_Mutation_p.A115V|IQCF3_ENST00000446775.1_Missense_Mutation_p.A115V|IQCF3_ENST00000437810.2_Missense_Mutation_p.A115V			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	115	IQ.							p.A115V(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCAATGCTCTCTGCTTG	0.547000													20	50					0	0	0.002299	0	0
TRAV21	28662	broad.mit.edu	37	14	22521215	22521215	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:22521215G>A	ENST00000390449.3	+	0	243																											CAAACAAGTGGAAGACTTAAT	0.478000													15	16					0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415878	105415878	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:105415878C>T	ENST00000333244.5	-	7	6029	c.5910G>A	c.(5908-5910)ctG>ctA	p.L1970L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1970						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCTCCCTCCAGCCGCGCAC	0.607000													139	143					0	0	0.003610	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534631	115534631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:115534631G>A	ENST00000354462.3	+	3	216	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E270K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E276K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E188K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E90K					pleckstrin homology domain containing, family S member 1																		CAGCAAAGAGGAACCCCAGAC	0.468000													4	31					0	0	0.000248	0	0
NUP35	129401	broad.mit.edu	37	2	183993134	183993134	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:183993134A>T	ENST00000295119.4	+	2	263	c.160A>T	c.(160-162)Att>Ttt	p.I54F	NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.I37F	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	54					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						ACCTCGATCAATTAGTGGCCC	0.438000													9	23					0	0	0.000673	0	0
SV2A	9900	broad.mit.edu	37	1	149880793	149880793	+	Missense_Mutation	SNP	G	G	A	rs117711516	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:149880793G>A	ENST00000369146.3	-	8	1820	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	SV2A_ENST00000369145.1_Missense_Mutation_p.R444W	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	444					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GTGATGCGCCGATATTCGGGA	0.512000													32	34					0	0	0.006230	0	0
MXRA5	25878	broad.mit.edu	37	X	3240467	3240467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3240467C>T	ENST00000217939.6	-	5	3413	c.3259G>A	c.(3259-3261)Ggc>Agc	p.G1087S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1087						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTCTTGGCCCTCACTCTCA	0.473000													36	11					0	0	0.007835	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909347	909347	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:909347G>A	ENST00000379409.2	+	13	1755	c.1725G>A	c.(1723-1725)aaG>aaA	p.K575K	PLEKHN1_ENST00000379410.3_Silent_p.K523K|PLEKHN1_ENST00000379407.2_Silent_p.K488K			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	575										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTCCAAGAAGGGAGCCCTGC	0.701000													3	12					0	0	0.004672	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170733	167170733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:167170733C>T	ENST00000476257.1	-	7	1253	c.955G>A	c.(955-957)Gga>Aga	p.G319R	SERPINI2_ENST00000471111.1_Missense_Mutation_p.G319R|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G319R|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G319R			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	319					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTGTTATTCCAGAAAGGTCG	0.299000													14	5					0	0	0.003163	0	0
FMO4	2329	broad.mit.edu	37	1	171292228	171292228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:171292228C>T	ENST00000367749.3	+	4	548	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	73					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGTGACTTCCCTTTCCACGAA	0.388000													19	13					0	0	0.001523	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400917	11400917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:11400917G>A	ENST00000002596.5	-	2	1887	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	238						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GATCTGCGGCGACAGCTTTAG	0.562000													15	16					0	0	0.004007	0	0
CACNA1C	775	broad.mit.edu	37	12	2566793	2566793	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:2566793G>A	ENST00000399655.1	+	5	943	c.678G>A	c.(676-678)ggG>ggA	p.G226G	CACNA1C_ENST00000399606.1_Silent_p.G226G|CACNA1C_ENST00000347598.4_Silent_p.G226G|CACNA1C_ENST00000399617.1_Silent_p.G226G|CACNA1C_ENST00000327702.7_Silent_p.G226G|CACNA1C_ENST00000406454.3_Silent_p.G226G|CACNA1C_ENST00000399595.1_Silent_p.G226G|CACNA1C_ENST00000335762.5_Silent_p.G226G|CACNA1C_ENST00000399641.1_Silent_p.G226G|CACNA1C_ENST00000344100.3_Silent_p.G226G|CACNA1C_ENST00000399597.1_Silent_p.G226G|CACNA1C_ENST00000399629.1_Silent_p.G226G|CACNA1C_ENST00000399591.1_Silent_p.G226G|CACNA1C_ENST00000399638.1_Silent_p.G226G|CACNA1C_ENST00000399637.1_Silent_p.G226G|CACNA1C_ENST00000399649.1_Silent_p.G226G|CACNA1C_ENST00000399621.1_Silent_p.G226G|CACNA1C_ENST00000399601.1_Silent_p.G226G|CACNA1C_ENST00000399634.1_Silent_p.G226G|CACNA1C_ENST00000402845.3_Silent_p.G226G|CACNA1C_ENST00000399644.1_Silent_p.G226G|CACNA1C_ENST00000480911.1_Silent_p.G226G|CACNA1C_ENST00000399603.1_Silent_p.G226G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	226					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557000													109	27					0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121420724	121420724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:121420724C>T	ENST00000260197.7	+	15	2236	c.2107C>T	c.(2107-2109)Ccg>Tcg	p.P703S		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	703					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTTCCAGATCCGGAATTTTC	0.448000													16	12					0	0	0.006122	0	0
MGST2	4258	broad.mit.edu	37	4	140599715	140599715	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:140599715T>C	ENST00000265498.1	+	2	329	c.77T>C	c.(76-78)gTt>gCt	p.V26A	MGST2_ENST00000506797.1_Missense_Mutation_p.V26A|MGST2_ENST00000515137.1_Intron	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	26					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	GCTTTGCAAGTTGGAAAGGCA	0.403000													9	2					0	0	0.004482	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609150	31609150	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:31609150G>A	ENST00000170150.3	+	14	1453	c.1258_splice	c.e14+1	p.A420_splice		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	420						extracellular region	lipid binding										CCATCTCAATGGTAAGCCCTG	0.647000													13	24					0	0	0.001368	0	0
SPAG17	200162	broad.mit.edu	37	1	118548083	118548083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:118548083G>A	ENST00000336338.5	-	32	4795	c.4730C>T	c.(4729-4731)tCa>tTa	p.S1577L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1577						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATAACCTCTGAAGTATGCCT	0.453000													35	14					0	0	0.007835	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775725	70775725	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:70775725C>T	ENST00000361983.4	+	7	1521	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	473					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACAGACAGATCCAGTTTGAAA	0.413000													9	12					0	0	0.004482	0	0
SVIL	6840	broad.mit.edu	37	10	29773716	29773716	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29773716C>T	ENST00000375398.2	-	29	5273	c.4824G>A	c.(4822-4824)ggG>ggA	p.G1608G	SVIL_ENST00000375400.3_Silent_p.G1182G|SVIL_ENST00000535393.1_Silent_p.G522G|SVIL_ENST00000355867.4_Silent_p.G1608G|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Silent_p.G400G			O95425	SVIL_HUMAN	supervillin	1608	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACTTCTTTCCCATGCCATA	0.398000													8	10					0	0	0.000978	0	0
PIWIL2	55124	broad.mit.edu	37	8	22161634	22161634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:22161634C>T	ENST00000356766.6	+	11	1430	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R428C|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R428C	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	428	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCGTACCTATCGTATTGATGA	0.398000													39	30					0	0	0.004878	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530117	140530117	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140530117G>A	ENST00000543635.1	+	0	230				PCDHB6_ENST00000231136.1_Silent_p.E93E			Q9Y5E3	PCDB6_HUMAN							calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGGAGGAGCTGTGTGGCT	0.488000													25	54					0	0	0.004656	0	0
SYT15	83849	broad.mit.edu	37	10	46969278	46969278	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:46969278G>A	ENST00000374325.3	-	2	335	c.183C>T	c.(181-183)tgC>tgT	p.C61C	SYT15_ENST00000503753.1_Silent_p.C61C|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Silent_p.C61C	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	61						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATGCGGCTGGCAGGGCCTGT	0.627000													9	22					0	0	0.000673	0	0
WDYHV1	55093	broad.mit.edu	37	8	124448771	124448771	+	Missense_Mutation	SNP	C	C	T	rs145997552		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:124448771C>T	ENST00000523984.1	+	4	361	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	WDYHV1_ENST00000287387.2_Missense_Mutation_p.P105S|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.P105S|WDYHV1_ENST00000518125.1_Intron			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	105					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.P105S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTTGCCATTTCCCTGCCTCTT	0.383000													12	44					0	0	0.001368	0	0
DCTN4	51164	broad.mit.edu	37	5	150138482	150138482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:150138482G>A	ENST00000447998.2	-	1	189	c.74C>T	c.(73-75)tCg>tTg	p.S25L	DCTN4_ENST00000446090.2_Missense_Mutation_p.S25L	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	25						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGAGTTGCGAGAGCGGGGC	0.587000													39	42					0	0	0.005524	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892118	2892118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:2892118C>T	ENST00000254528.3	+	4	2152	c.1993C>T	c.(1993-1995)Cat>Tat	p.H665Y		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	665					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCCGTGGCTCATTGCTGCAG	0.592000													26	11					0	0	0.004656	0	0
MYT1L	23040	broad.mit.edu	37	2	1983324	1983324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:1983324G>A	ENST00000399161.2	-	7	805	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P20S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	20					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTCCACGGGAACTGCAGAG	0.443000													28	21					0	0	0.002836	0	0
NLRP8	126205	broad.mit.edu	37	19	56459592	56459592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56459592G>A	ENST00000291971.3	+	1	395	c.324G>A	c.(322-324)atG>atA	p.M108I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M108I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	108	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCCATTATGAACTGTGATA	0.507000													33	20					0	0	0.003755	0	0
ZNF536	9745	broad.mit.edu	37	19	31040070	31040070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:31040070G>A	ENST00000355537.3	+	4	3691	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGATGAAGAGGATGTTGAAAC	0.557000													39	28					0	0	0.005524	0	0
SORCS3	22986	broad.mit.edu	37	10	107022245	107022245	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:107022245C>T	ENST00000369701.3	+	26	3827	c.3600C>T	c.(3598-3600)gtC>gtT	p.V1200V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1200						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACGCGGGTCATAGGTACAT	0.537000													4	17					0	0	0.000248	0	0
TRIM10	10107	broad.mit.edu	37	6	30124729	30124729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:30124729C>T	ENST00000449742.2	-	5	957	c.882G>A	c.(880-882)atG>atA	p.M294I	TRIM10_ENST00000376704.3_Missense_Mutation_p.M294I	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	294	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						GAAACATCTTCATCTCCCTCT	0.607000													22	37					0	0	0.002299	0	0
ADAM21	8747	broad.mit.edu	37	14	70925007	70925007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:70925007G>A	ENST00000603540.1	+	2	1049	c.791G>A	c.(790-792)gGa>gAa	p.G264E	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.G264E	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	264	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAATCAAGGAAATGTTTTC	0.373000													27	22					0	0	0.004656	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702954	27702954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:27702954G>A	ENST00000438700.3	-	1	343	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	76					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACGGCCGGGGGGGTGCATCG	0.721000													11	27					0	0	0.000978	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913701	77913701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:77913701C>T	ENST00000321110.1	-	2	512	c.217G>A	c.(217-219)Gcc>Acc	p.A73T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	73	Pro-rich.						nucleic acid binding|zinc ion binding	p.A73T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCTCCCAGGCTGCTGGGGGA	0.587000													7	14					0	0	0.001984	0	0
GP6	51206	broad.mit.edu	37	19	55526347	55526347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55526347G>A	ENST00000417454.1	-	8	989	c.962C>T	c.(961-963)tCa>tTa	p.S321L	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Silent_p.I322I|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.S303L	NM_016363.4	NP_057447.4	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	321					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACCCCCGTTTGATTTCCGGGT	0.662000													10	7					0	0	0.001368	0	0
GK2	2712	broad.mit.edu	37	4	80328862	80328862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:80328862G>A	ENST00000358842.3	-	1	510	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	165					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGCCTTTTGGACGTTTCTC	0.433000													18	49					0	0	0.006122	0	0
PLCH1	23007	broad.mit.edu	37	3	155311920	155311920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:155311920G>A	ENST00000460012.1	-	4	547	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	PLCH1_ENST00000447496.2_Missense_Mutation_p.H82Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.H82Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.H64Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.H64Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.H82Y			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	82	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGTCTGTGGAATATTTCA	0.493000													30	17					0	0	0.001512	0	0
CDH12	1010	broad.mit.edu	37	5	21854813	21854813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:21854813C>T	ENST00000382254.1	-	7	1699	c.613G>A	c.(613-615)Gga>Aga	p.G205R	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G205R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G205R(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAGGTTGTCCCTGAAGAATG	0.393000										HNSCC(59;0.17)			10	13					0	0	0.006214	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175270	156175270	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:156175270A>G	ENST00000302490.8	+	4	1203	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	KCNAB1_ENST00000389636.5_Missense_Mutation_p.Y129C|KCNAB1_ENST00000490337.1_Missense_Mutation_p.Y129C|KCNAB1_ENST00000389634.5_Missense_Mutation_p.Y111C|KCNAB1_ENST00000471742.1_Missense_Mutation_p.Y118C|KCNAB1_ENST00000497291.1_3'UTR	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	129						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCATCGCCTATGAAAGTGGT	0.463000													61	39					0	0	0.003610	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812803	45812803	+	Missense_Mutation	SNP	G	G	A	rs141997139		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:45812803G>A	ENST00000358525.4	-	6	956	c.841C>T	c.(841-843)Ctc>Ttc	p.L281F	SLC6A20_ENST00000353278.4_Missense_Mutation_p.L244F|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L281F	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	281					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGTTGATGAGGGACACGATG	0.502000													16	75					0	0	0.006122	0	0
C7	730	broad.mit.edu	37	5	40959697	40959697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:40959697G>A	ENST00000313164.9	+	12	1995	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	546	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CACACAATGCGAAGATGAGGA	0.522000													4	7					0	0	0.000248	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579783	44579783	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:44579783C>T	ENST00000289547.4	-	2	268	c.213G>A	c.(211-213)ctG>ctA	p.L71L	NPC1L1_ENST00000423141.1_Silent_p.L71L|NPC1L1_ENST00000381160.3_Silent_p.L71L|NPC1L1_ENST00000546276.1_Silent_p.L71L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	71					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTAATAGGATCAGGTGATCAC	0.582000													11	43					0	0	0.000673	0	0
GALP	85569	broad.mit.edu	37	19	56693615	56693615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56693615G>A	ENST00000357330.2	+	4	293	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	71					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCTGTGGAAGGCCATCGGTGA	0.587000													6	24					0	0	0.003080	0	0
EDARADD	128178	broad.mit.edu	37	1	236631543	236631543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:236631543G>A	ENST00000359362.5	+	5	416	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	EDARADD_ENST00000334232.4_Missense_Mutation_p.G78S	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	78					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAAGAAAATGGCTTTCCAGA	0.353000													24	97					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179496982C>T	ENST00000589042.1	-	236	43863	c.43639G>A	c.(43639-43641)Gaa>Aaa	p.E14547K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5674K|TTN_ENST00000460472.2_Missense_Mutation_p.E5482K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12906K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11979K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5607K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12906	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCCCTTCGTCTTGCATT	0.433000													3	5					0	0	0.000248	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:20389662G>A	ENST00000315915.4	+	1	922	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000													22	48					0	0	0.003330	0	0
CPT1C	126129	broad.mit.edu	37	19	50214099	50214099	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:50214099G>A	ENST00000392518.4	+	16	2223	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	CPT1C_ENST00000405931.2_Silent_p.E606E|CPT1C_ENST00000598293.1_Silent_p.E617E|CPT1C_ENST00000323446.5_Silent_p.E617E|CPT1C_ENST00000354199.5_Silent_p.E617E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	617					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGGCCATGGAGGACAAAGAGA	0.552000													7	36					0	0	0.001984	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033166	20033166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:20033166C>T	ENST00000377340.2	-	2	335	c.304G>A	c.(304-306)Gga>Aga	p.G102R	CRNKL1_ENST00000377327.4_Missense_Mutation_p.G90R|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCACCGTTTCCATGGTGACCA	0.617000													46	36					0	0	0.003610	0	0
CST8	10047	broad.mit.edu	37	20	23473643	23473643	+	Missense_Mutation	SNP	G	G	A	rs147883534	by1000genomes	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:23473643G>A	ENST00000246012.1	+	3	637	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	94						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCCCGCAGCGATTGCAGAAA	0.393000													103	133					0	0	0.003610	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931009	22931009	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:22931009G>A	ENST00000390302.2	+	0	262																											CCAGACTCCTGATTTACAATG	0.522000													95	181					0	0	0.003610	0	0
ZIM2	23619	broad.mit.edu	37	19	57286721	57286721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:57286721G>A	ENST00000391708.3	-	12	1461	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	ZIM2_ENST00000593711.1_Nonsense_Mutation_p.Q307*|ZIM2_ENST00000221722.5_Nonsense_Mutation_p.Q307*|ZIM2_ENST00000601070.1_Nonsense_Mutation_p.Q307*|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Nonsense_Mutation_p.Q307*|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GTGCCTTCCTGGGGATCCTTT	0.458000													47	22					0	0	0.003214	0	0
CLCN4	1183	broad.mit.edu	37	X	10181893	10181893	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:10181893C>T	ENST00000380833.4	+	11	2140	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	CLCN4_ENST00000380829.1_Silent_p.F552F|CLCN4_ENST00000421085.2_Silent_p.F489F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	583						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTACCCTTTCCTTGACGTGA	0.607000													23	24					0	0	0.004656	0	0
PTGS1	5742	broad.mit.edu	37	9	125140266	125140266	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:125140266G>A	ENST00000362012.2	+	3	188	c.183G>A	c.(181-183)acG>acA	p.T61T	PTGS1_ENST00000540753.1_Silent_p.T36T|PTGS1_ENST00000223423.4_Silent_p.T61T|PTGS1_ENST00000373698.5_5'UTR	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	61	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.T61T(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCACCCGCACGGGCTATTCCG	0.612000													24	7					0	0	0.003954	0	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:4661314C>T	ENST00000357605.2	+	1	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000													11	13					0	0	0.000673	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25197488	25197488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:25197488C>T	ENST00000376376.3	-	4	482	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000320152.6_Intron|PRTFDC1_ENST00000376378.1_Intron			Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	0					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GGAATGAGCACTTGGAGGTAA	0.488000													23	16					0	0	0.005443	0	0
NEFM	4741	broad.mit.edu	37	8	24775838	24775838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24775838G>A	ENST00000221166.5	+	3	3252	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	NEFM_ENST00000518131.1_Missense_Mutation_p.E606K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.E448K|NEFM_ENST00000437366.2_Missense_Mutation_p.E785K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	824	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cagtgggagggaagaggagaa	0.512000													18	13					0	0	0.007413	0	0
GLCCI1	113263	broad.mit.edu	37	7	8124643	8124643	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:8124643A>C	ENST00000223145.5	+	7	1851	c.1294A>C	c.(1294-1296)Atg>Ctg	p.M432L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	432										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTTTGAGGAAATGGCGTAAGT	0.443000													38	18					0	0	0.006999	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513569	50513569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:50513569C>T	ENST00000435965.1	-	2	441	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G90S|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G90S|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G90S|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.G90S|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G90S|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G90S|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G21S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	90					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTGGACGCCTCCAAAAATC	0.602000													4	10					0	0	0.000248	0	0
MTMR8	55613	broad.mit.edu	37	X	63445469	63445469	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:63445469A>G	ENST00000453546.1	-	10	1276	c.1187T>C	c.(1186-1188)cTc>cCc	p.L396P	ASB12_ENST00000362002.2_Missense_Mutation_p.L21P|ASB12_ENST00000396130.2_Missense_Mutation_p.L12P			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGCTGCAGGAGGGAGAAGAT	0.483000													4	7					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126411568	126411568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126411568G>A	ENST00000394329.3	+	17	13604	c.13591G>A	c.(13591-13593)Ggg>Agg	p.G4531R	FAT4_ENST00000335110.5_Missense_Mutation_p.G2772R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4531					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGTGCAGGGGGAAGAAGGC	0.532000													11	31					0	0	0.000673	0	0
SCN11A	11280	broad.mit.edu	37	3	38945589	38945589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38945589C>T	ENST00000302328.3	-	12	1807	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E537K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E537K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E537K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	537					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATTTTTCTTGTTCTGGA	0.527000													3	18					0	0	0.004672	0	0
AGTR2	186	broad.mit.edu	37	X	115303632	115303632	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:115303632G>A	ENST00000371906.4	+	3	289	c.99G>A	c.(97-99)ttG>ttA	p.L33L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	33					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AGTCTACCTTGAACTGTTCAC	0.393000													9	13					0	0	0.004482	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509584	102509584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:102509584C>T	ENST00000321521.9	+	21	3010	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P813S|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P813S			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	813					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTCTGTCTCCTGAACGTCA	0.323000													16	12					0	0	0.004990	0	0
INSRR	3645	broad.mit.edu	37	1	156821105	156821105	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:156821105G>A	ENST00000368195.3	-	5	1602	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	402					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTCTCCCCGGATTAGTTTGA	0.517000													138	126					0	0	0.003610	0	0
SPIDR	23514	broad.mit.edu	37	8	48353101	48353101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:48353101C>T	ENST00000297423.4	+	8	1478	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	SPIDR_ENST00000541342.1_Missense_Mutation_p.P295L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.P305L	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		ATCTTCCCTCCCTGGTGAGTG	0.517000													13	42					0	0	0.001855	0	0
DCPS	28960	broad.mit.edu	37	11	126176518	126176518	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:126176518G>A	ENST00000263579.4	+	2	584	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	85					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TGATCCTGGAGAAGACGCCAT	0.562000													9	12					0	0	0.004482	0	0
VIPAS39	63894	broad.mit.edu	37	14	77910664	77910664	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:77910664G>A	ENST00000553888.1	-	8	1035	c.525C>T	c.(523-525)ttC>ttT	p.F175F	VIPAS39_ENST00000327028.4_Silent_p.F162F|VIPAS39_ENST00000557658.1_Silent_p.F175F|VIPAS39_ENST00000343765.2_Silent_p.F175F|VIPAS39_ENST00000556412.1_Silent_p.F201F|VIPAS39_ENST00000448935.2_Silent_p.F126F	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		GTAAGGAGCGGAATCTCTCTA	0.398000													7	41					0	0	0.003080	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318795	21318795	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:21318795C>T	ENST00000583088.1	+	3	1036	c.141C>T	c.(139-141)gtC>gtT	p.V47V	KCNJ12_ENST00000331718.5_Silent_p.V47V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACCGCTTCGTCAAGAAGAATG	0.617000										Prostate(3;0.18)			8	28					0	0	0.003080	0	0
ZNF716	441234	broad.mit.edu	37	7	57522201	57522201	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:57522201T>A	ENST00000420713.1	+	2	187	c.75T>A	c.(73-75)ttT>ttA	p.F25L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTATAGAATTTTCTCTGGCGG	0.388000													27	9					0	0	0.003954	0	0
SYTL2	54843	broad.mit.edu	37	11	85436200	85436200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:85436200G>A	ENST00000359152.5	-	1	2871	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S	SYTL2_ENST00000354566.3_Missense_Mutation_p.P434S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P434S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACTGCTTCAGGAAATTCTGGG	0.463000													8	17					0	0	0.003080	0	0
CLCN4	1183	broad.mit.edu	37	X	10174571	10174571	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:10174571C>T	ENST00000380833.4	+	7	1120	c.729C>T	c.(727-729)tcC>tcT	p.S243S	CLCN4_ENST00000380829.1_Silent_p.S243S|CLCN4_ENST00000421085.2_Silent_p.S149S	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	243						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTTTTCTCCAAGTACAGCA	0.567000													11	17					0	0	0.000673	0	0
DRD2	1813	broad.mit.edu	37	11	113281467	113281467	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:113281467C>T	ENST00000362072.3	-	8	1658	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Silent_p.L437L|DRD2_ENST00000542968.1_Silent_p.L438L|DRD2_ENST00000346454.3_Silent_p.L409L|DRD2_ENST00000355319.2_Silent_p.L440L|DRD2_ENST00000538967.1_Silent_p.L440L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	438					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGAGGATCTTCAGGAAGGCCT	0.617000													25	42					0	0	0.007291	0	0
HSP90B1	7184	broad.mit.edu	37	12	104326097	104326097	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:104326097A>G	ENST00000299767.5	+	3	377	c.195A>G	c.(193-195)caA>caG	p.Q65Q		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	65					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATGCATCACAAATAAGAGAAC	0.348000													13	6					0	0	0.001368	0	0
CRNN	49860	broad.mit.edu	37	1	152382405	152382405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:152382405G>A	ENST00000271835.3	-	3	1215	c.1153C>T	c.(1153-1155)Caa>Taa	p.Q385*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	385	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATCTTTGACCACTGCCT	0.597000													26	68					0	0	0.004656	0	0
COL5A3	50509	broad.mit.edu	37	19	10114320	10114320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:10114320C>T	ENST00000264828.3	-	6	855	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	257	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTGCGACCTCGCCCTTTCTT	0.582000													19	57					0	0	0.001216	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945875	6945875	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:6945875G>C	ENST00000308009.1	-	3	963	c.626C>G	c.(625-627)cCc>cGc	p.P209R	SLC16A11_ENST00000447225.1_Missense_Mutation_p.P185R	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	209						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCGCCACAGGGGGTGAGGTG	0.692000													9	1					0	0	0.006214	0	0
MYO5C	55930	broad.mit.edu	37	15	52498066	52498066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:52498066C>T	ENST00000261839.7	-	37	4645	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1495	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATGATATATTCGTATAGCCAC	0.303000													21	22					0	0	0.001882	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127829	117127829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:117127829G>A	ENST00000310357.3	-	3	1060	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.P347S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	347					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTGTCACTGGGAAGCAAGTGC	0.383000													17	11					0	0	0.006122	0	0
ITIH2	3698	broad.mit.edu	37	10	7762927	7762927	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:7762927G>A	ENST00000358415.4	+	7	904		c.e7+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACAACAGAAGGTACCCTGAGC	0.502000													11	44					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179649068	179649068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179649068G>A	ENST00000589042.1	-	16	2728	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	TTN_ENST00000360870.5_Missense_Mutation_p.A835V|TTN_ENST00000342175.6_Missense_Mutation_p.A789V|TTN_ENST00000460472.2_Missense_Mutation_p.A789V|TTN_ENST00000591111.1_Missense_Mutation_p.A835V|TTN_ENST00000342992.6_Missense_Mutation_p.A835V|TTN_ENST00000359218.5_Missense_Mutation_p.A789V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	835							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACTACCGGCTATTGATGC	0.448000													23	15					0	0	0.002299	0	0
MFRP	83552	broad.mit.edu	37	11	119212430	119212430	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:119212430A>C	ENST00000555262.1	-	13	1727	c.1568T>G	c.(1567-1569)cTg>cGg	p.L523R	MFRP_ENST00000360167.4_Missense_Mutation_p.L405R|MFRP_ENST00000530681.1_Missense_Mutation_p.L523R|MFRP_ENST00000449574.2_Missense_Mutation_p.L523R|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGGCACAAGCAGCCCACACAG	0.657000													13	22					0	0	0.001855	0	0
IDS	3423	broad.mit.edu	37	X	148564354	148564354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:148564354C>T	ENST00000340855.6	-	9	1785	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	IDS_ENST00000537071.1_Missense_Mutation_p.D129N|IDS_ENST00000541269.1_Missense_Mutation_p.D315N	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	526						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGTCAGAATCCACAAAATAC	0.423000													19	30					0	0	0.001216	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138652	22138652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:22138652C>T	ENST00000356766.6	+	3	366	c.218C>T	c.(217-219)tCc>tTc	p.S73F	PIWIL2_ENST00000521356.1_Missense_Mutation_p.S73F|PIWIL2_ENST00000454009.2_Missense_Mutation_p.S73F	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	73					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGTTTGGTCTCCATGTTCCGA	0.418000													40	41					0	0	0.002852	0	0
FBLN1	2192	broad.mit.edu	37	22	45923749	45923749	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:45923749T>C	ENST00000348697.2	+	4	491	c.344T>C	c.(343-345)cTg>cCg	p.L115P	FBLN1_ENST00000442170.2_Missense_Mutation_p.L115P|FBLN1_ENST00000402984.3_Missense_Mutation_p.L153P|FBLN1_ENST00000340923.5_Missense_Mutation_p.L115P|FBLN1_ENST00000327858.6_Missense_Mutation_p.L115P|FBLN1_ENST00000262722.7_Missense_Mutation_p.L115P			P23142	FBLN1_HUMAN	fibulin 1	115	Anaphylatoxin-like 3.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCTGTCTGCTGGGGAGGGCG	0.647000													21	97					0	0	0.003330	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919953	12919953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12919953G>A	ENST00000240189.2	+	3	780	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	231										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGGAGATGAAGACTCTTT	0.408000													33	40					0	0	0.002836	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388970	119388970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:119388970C>T	ENST00000326624.2	+	2	1928	c.1700C>T	c.(1699-1701)tCa>tTa	p.S567L	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S567L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	567	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTATGTCTTCACATATAAAG	0.393000													26	54					0	0	0.006320	0	0
OR52B2	255725	broad.mit.edu	37	11	6191460	6191460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:6191460G>A	ENST00000530810.1	-	1	178	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAGGCAAAGAGGTATTGAC	0.458000													9	22					0	0	0.004482	0	0
DAXX	1616	broad.mit.edu	37	6	33289051	33289051	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33289051G>A	ENST00000374542.5	-	3	705	c.501C>T	c.(499-501)gaC>gaT	p.D167D	DAXX_ENST00000266000.6_Silent_p.D167D|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.D92D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	167					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CATTTGTGGGGTCCAAGGAGA	0.592000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								30	49					0	0	0.006320	0	0
DNAH8	1769	broad.mit.edu	37	6	38890917	38890917	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:38890917C>T	ENST00000359357.3	+	70	10349	c.10095C>T	c.(10093-10095)atC>atT	p.I3365I	DNAH8_ENST00000441566.1_Silent_p.I3329I|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Silent_p.I3582I|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAAAAATCCGGTGGACCC	0.448000													20	6					0	0	0.002299	0	0
ABCA13	154664	broad.mit.edu	37	7	48443295	48443295	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:48443295G>A	ENST00000435803.1	+	39	11913	c.11889G>A	c.(11887-11889)gtG>gtA	p.V3963V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3963	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGGATGTGGACTTAACTC	0.453000													5	27					0	0	0.000602	0	0
MTMR8	55613	broad.mit.edu	37	X	63444318	63444318	+	Missense_Mutation	SNP	C	C	T	rs144858124		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:63444318C>T	ENST00000453546.1	-	11	2068	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H	ASB12_ENST00000362002.2_Missense_Mutation_p.R285H|ASB12_ENST00000396130.2_Missense_Mutation_p.R276H			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GACGACTAAACGGACCTGTGA	0.502000													4	22					0	0	0.000248	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513907	143513907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:143513907G>A	ENST00000316549.6	-	4	677	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	157					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTAAGTTTTGAAAAAAGTGT	0.368000													10	26					0	0	0.006214	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167178	140167178	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140167178C>T	ENST00000504120.2	+	1	1303	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	PCDHA1_ENST00000394633.3_Silent_p.L435L|PCDHA1_ENST00000378133.3_Silent_p.L435L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCGCTGTGGGCCAC	0.627000													41	41					0	0	0.001951	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701746	56701746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56701746C>T	ENST00000586855.2	-	5	1251	c.938G>A	c.(937-939)gGa>gAa	p.G313E	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.G313E			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	313					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGGCTTCTCCTTGAGGCTC	0.557000													58	78					0	0	0.003610	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:74464404G>A	ENST00000355780.5	-	12	1495	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	STAU2_ENST00000519961.1_Missense_Mutation_p.S458L|STAU2_ENST00000521727.1_Missense_Mutation_p.S438L|STAU2_ENST00000523558.1_Missense_Mutation_p.S286L|STAU2_ENST00000522695.1_Missense_Mutation_p.S426L|STAU2_ENST00000521210.1_Missense_Mutation_p.S354L|STAU2_ENST00000517542.1_Missense_Mutation_p.S420L|STAU2_ENST00000522509.1_Missense_Mutation_p.S426L|STAU2_ENST00000521451.1_Missense_Mutation_p.S238L|STAU2_ENST00000524300.1_Missense_Mutation_p.S458L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000													51	45					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26918102	26918102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:26918102G>A	ENST00000539517.2	-	5	904	c.587C>T	c.(586-588)gCt>gTt	p.A196V	NOVA1_ENST00000267422.7_Missense_Mutation_p.A74V|NOVA1_ENST00000465357.2_Missense_Mutation_p.A172V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	199	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTCCATTACAGCCTTCACAGT	0.438000													39	75					0	0	0.002222	0	0
CXorf22	170063	broad.mit.edu	37	X	35984828	35984828	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:35984828C>T	ENST00000297866.5	+	9	1623	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	519										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAACAGCATCTGTAAAGCTT	0.363000													17	24					0	0	0.001216	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:111996918C>T	ENST00000369722.3	+	3	769	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000													39	14					0	0	0.004289	0	0
PSG8	440533	broad.mit.edu	37	19	43359717	43359717	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:43359717G>A	ENST00000401467.2	-	1	126	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	19						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTGTGAGCAGGACCCCCTTC	0.562000													13	75					0	0	0.001855	0	0
ATP9A	10079	broad.mit.edu	37	20	50245611	50245611	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:50245611C>T	ENST00000338821.5	-	16	1933	c.1668_splice	c.e16-1	p.D557_splice	ATP9A_ENST00000311637.5_Splice_Site_p.D421_splice|ATP9A_ENST00000402822.1_Splice_Site_p.D436_splice	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	557					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTGATTCATCCTAGAGAGGG	0.478000													33	86					0	0	0.002445	0	0
INADL	10207	broad.mit.edu	37	1	62626602	62626602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:62626602G>A	ENST00000371158.2	+	43	5515	c.5401G>A	c.(5401-5403)Gat>Aat	p.D1801N		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1801					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGACGGCCGATTAAAACGA	0.413000													5	23					0	0	0.001168	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103596364	103596364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:103596364G>A	ENST00000560869.1	+	5	1640	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R334Q|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R3Q			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	334					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TTGATGGACCGAGCTCTGGAG	0.642000													34	35					0	0	0.004878	0	0
FAM151A	338094	broad.mit.edu	37	1	55088965	55088965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:55088965G>A	ENST00000302250.2	-	1	264	c.104C>T	c.(103-105)aCc>aTc	p.T35I	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.T35I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	35						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGCCGCAGGGTGATGGCAAG	0.562000													15	44					0	0	0.004007	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121975	73121975	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:73121975C>T	ENST00000373189.5	+	6	1090	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	346					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCAAGTTTTTCATCCCCCTCA	0.577000													18	82					0	0	0.001523	0	0
SALL3	27164	broad.mit.edu	37	18	76754766	76754766	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:76754766G>A	ENST00000536229.3	+	1	3085	c.2376G>A	c.(2374-2376)ccG>ccA	p.P792P	SALL3_ENST00000575389.2_Silent_p.P925P|SALL3_ENST00000537592.2_Silent_p.P925P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGGCGCCCCGGAGGAGCCCC	0.756000													5	2					0	0	0.001168	0	0
SVIL	6840	broad.mit.edu	37	10	29813478	29813478	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:29813478T>A	ENST00000375398.2	-	16	2958	c.2509A>T	c.(2509-2511)Aac>Tac	p.N837Y	SVIL_ENST00000375400.3_Missense_Mutation_p.N411Y|SVIL_ENST00000355867.4_Missense_Mutation_p.N837Y			O95425	SVIL_HUMAN	supervillin	837					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTATTCTGTTCCGGGTAGAA	0.498000													11	49					0	0	0.000673	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994221	1994221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:1994221C>T	ENST00000382722.5	-	10	1452	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E364K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E300K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E280K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E300K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E364K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	364	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCATCAACTCCTCCACCAGC	0.542000													67	15					0	0	0.003610	0	0
OR2H2	7932	broad.mit.edu	37	6	29555766	29555766	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:29555766C>T	ENST00000383640.2	+	1	84	c.45C>T	c.(43-45)ttC>ttT	p.F15F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	15					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F15F(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCTGGGCTTCTCTGAACACC	0.542000													55	65					0	0	0.003610	0	0
HOOK2	29911	broad.mit.edu	37	19	12878642	12878642	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:12878642A>G	ENST00000264827.5	-	13	1461	c.1291T>C	c.(1291-1293)Ttg>Ctg	p.L431L	HOOK2_ENST00000397668.3_Silent_p.L431L|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	431	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCCTGGGTCAACCCCCGCGGC	0.632000													3	13					0	0	0.004672	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144120	106144120	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:106144120G>A	ENST00000276173.4	-	4	344	c.315C>T	c.(313-315)tcC>tcT	p.S105S	RIPPLY1_ENST00000411805.1_Silent_p.S58S|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	105	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						CGAAGGAGCGGGATTTAGGCC	0.527000													5	15					0	0	0.000602	0	0
MCHR2	84539	broad.mit.edu	37	6	100395829	100395829	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:100395829G>A	ENST00000281806.2	-	3	515	c.201C>T	c.(199-201)gtC>gtT	p.V67V	MCHR2_ENST00000369212.1_Silent_p.V67V|MCHR2_ENST00000445970.1_Silent_p.V67V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	67						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGATGTCAGGGACTGTTTTTT	0.418000													17	1					0	0	0.007413	0	0
HERC2	8924	broad.mit.edu	37	15	28502359	28502359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:28502359G>A	ENST00000261609.7	-	17	2473	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	789					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCACAAAAGGGACACGGAGG	0.532000													13	39					0	0	0.002450	0	0
IFNA14	3448	broad.mit.edu	37	9	21239695	21239695	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:21239695G>A	ENST00000380222.2	-	1	283	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATCTCATGGAGGACAGAGA	0.458000													62	12					0	0	0.003610	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407715	36407715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:36407715C>T	ENST00000405275.2	+	11	1171	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.Q85*|CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.Q150*|CTNNBL1_ENST00000361383.6_Nonsense_Mutation_p.Q337*			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	337					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGAGGGTCTTCAGCTGATGAA	0.483000													43	55					0	0	0.003610	0	0
FAM24A	118670	broad.mit.edu	37	10	124671180	124671180	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:124671180G>A	ENST00000368894.1	+	2	151	c.30G>A	c.(28-30)aaG>aaA	p.K10K		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	10						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCAGGACGAAGATCATGATCG	0.493000													25	80					0	0	0.003954	0	0
OR7D4	125958	broad.mit.edu	37	19	9324843	9324843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9324843G>A	ENST00000308682.2	-	1	699	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCCCATTAAGGAGGAGACAAT	0.502000													11	48					0	0	0.000673	0	0
CRTAM	56253	broad.mit.edu	37	11	122720866	122720866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:122720866C>T	ENST00000227348.4	+	2	184	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	46	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGGAAGAACTCCTCCCTCCAG	0.483000													9	20					0	0	0.004482	0	0
ZFAT	57623	broad.mit.edu	37	8	135669812	135669812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:135669812G>A	ENST00000520727.1	-	3	451	c.152C>T	c.(151-153)aCc>aTc	p.T51I	ZFAT_ENST00000520214.1_Missense_Mutation_p.T51I|ZFAT_ENST00000523399.1_Missense_Mutation_p.T63I|ZFAT_ENST00000429442.2_Missense_Mutation_p.T51I|ZFAT_ENST00000520356.1_Missense_Mutation_p.T51I|ZFAT_ENST00000377838.3_Missense_Mutation_p.T63I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCATCTCCGGTTTTGCTTGA	0.502000													35	22					0	0	0.002836	0	0
BTBD11	121551	broad.mit.edu	37	12	107713183	107713183	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:107713183A>G	ENST00000280758.5	+	1	994	c.466A>G	c.(466-468)Aag>Gag	p.K156E	BTBD11_ENST00000490090.2_Missense_Mutation_p.K156E|BTBD11_ENST00000420571.2_Missense_Mutation_p.K156E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	156						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGCTTCGCCAAGTGCACCAA	0.687000													4	2					0	0	0.000602	0	0
SCN11A	11280	broad.mit.edu	37	3	38945371	38945371	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38945371C>T	ENST00000302328.3	-	12	2025	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L	SCN11A_ENST00000450244.1_Silent_p.L609L|SCN11A_ENST00000444237.2_Silent_p.L609L|SCN11A_ENST00000456224.3_Silent_p.L609L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	609					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCCTATATTCAACATCTTCT	0.348000													19	6					0	0	0.007413	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000553	73000553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr18:73000553C>T	ENST00000322038.5	+	2	3640	c.3056C>T	c.(3055-3057)cCc>cTc	p.P1019L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P1064L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1064						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCAAGTCTCCCGAGGACCAC	0.522000													25	23					0	0	0.005443	0	0
DLG4	1742	broad.mit.edu	37	17	7106564	7106564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:7106564C>T	ENST00000399510.2	-	9	1571	c.719G>A	c.(718-720)gGg>gAg	p.G240E	DLG4_ENST00000485100.1_Missense_Mutation_p.G194E|DLG4_ENST00000302955.6_Missense_Mutation_p.G194E|DLG4_ENST00000399506.2_Missense_Mutation_p.G197E	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	197	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGCAGCACCCCCTTCGATGAT	0.547000													27	27					0	0	0.006320	0	0
CRY2	1408	broad.mit.edu	37	11	45891313	45891313	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45891313T>G	ENST00000443527.2	+	7	1224	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	CRY2_ENST00000417225.2_Missense_Mutation_p.V319G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	380	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CGGCATGCCGTGGCCTGCTTC	0.642000													15	18					0	0	0.006122	0	0
PLCB4	5332	broad.mit.edu	37	20	9416266	9416266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:9416266G>A	ENST00000378501.2	+	25	2563	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	PLCB4_ENST00000278655.4_Missense_Mutation_p.D850N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D850N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D862N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.D862N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D850N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	850					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGAGAGCAGACCAAATGAG	0.368000													41	74					0	0	0.001951	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602000													6	16					0	0	0.001168	0	0
ITGB1	3688	broad.mit.edu	37	10	33190517	33190517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:33190517G>A	ENST00000396033.2	-	16	2513	c.2378C>T	c.(2377-2379)cCg>cTg	p.P793L	ITGB1_ENST00000374956.4_3'UTR|ITGB1_ENST00000423113.1_3'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.P793L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	793					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTCATACTTCGGATTGACCAC	0.368000													4	31					0	0	0.000602	0	0
CD86	942	broad.mit.edu	37	3	121825305	121825305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:121825305G>A	ENST00000330540.2	+	4	777	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E215K|CD86_ENST00000493101.1_Missense_Mutation_p.E109K|CD86_ENST00000469710.1_Missense_Mutation_p.E139K	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	221	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTGTATTCTGGAAACTGACAA	0.388000													62	42					0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762807	130762807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:130762807C>T	ENST00000392429.1	+	2	3618	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R414W|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R414W	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	414						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGCAGAACAACGGAAACATCC	0.483000													38	11					0	0	0.006999	0	0
WDR49	151790	broad.mit.edu	37	3	167196728	167196728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:167196728C>T	ENST00000308378.3	-	15	2337	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	WDR49_ENST00000479765.1_3'UTR|WDR49_ENST00000476376.1_Missense_Mutation_p.E503K|WDR49_ENST00000453925.2_Missense_Mutation_p.E643K|SERPINI2_ENST00000476257.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	678										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCTTTTCGTTCATGATGCAGA	0.318000													11	10					0	0	0.000673	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668540	94668540	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:94668540C>T	ENST00000260526.6	-	10	1070	c.888G>A	c.(886-888)agG>agA	p.R296R	ARHGAP29_ENST00000370217.3_Silent_p.R296R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	296					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCATTTTTCCTTCCAAGTA	0.294000													11	54					0	0	0.001368	0	0
PLG	5340	broad.mit.edu	37	6	161152120	161152120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:161152120G>A	ENST00000308192.9	+	11	1357	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	432	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGCCGATAAAGGCCC	0.512000													44	8					0	0	0.002222	0	0
OR4C15	81309	broad.mit.edu	37	11	55322137	55322137	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55322137C>T	ENST00000314644.2	+	1	355	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGGGCTTCCTGTCCTTCCT	0.463000										HNSCC(20;0.049)			7	20					0	0	0.001984	0	0
AATK	9625	broad.mit.edu	37	17	79095360	79095360	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:79095360G>A	ENST00000326724.4	-	11	2400	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	AATK_ENST00000417379.1_Silent_p.P689P	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	792	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGGCAGGCGGGGTCCGGTAG	0.692000													12	19					0	0	0.002450	0	0
PLIN5	440503	broad.mit.edu	37	19	4523732	4523732	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:4523732G>A	ENST00000381848.3	-	8	1280	c.1200C>T	c.(1198-1200)atC>atT	p.I400I		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	400						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGGGCCCCCGATGACCTCGT	0.726000													44	36					0	0	0.002852	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765618	101765618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:101765618C>T	ENST00000334289.3	-	8	1434	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	280	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACCAGCATTTCCTGAATACCG	0.294000													6	15					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152427047	152427047	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:152427047G>A	ENST00000427231.2	-	108	17284	c.17082C>T	c.(17080-17082)atC>atT	p.I5694I	NEB_ENST00000397345.3_Silent_p.I5694I|NEB_ENST00000604864.1_Silent_p.I5694I|NEB_ENST00000603639.1_Silent_p.I5694I|NEB_ENST00000172853.10_Silent_p.I3993I|NEB_ENST00000409198.1_Silent_p.I3993I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5711					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCAGCCTGGATGGGGATGG	0.498000													9	8					0	0	0.000978	0	0
TCL1B	9623	broad.mit.edu	37	14	96157134	96157134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:96157134C>T	ENST00000340722.7	+	2	275	c.224C>T	c.(223-225)tCc>tTc	p.S75F	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	75										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GAGCTACTCTCCTCCGGCCAG	0.582000													52	79					0	0	0.003610	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794693	140794693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140794693C>T	ENST00000398610.2	+	1	1951	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGCCGTCCAGGACCACGG	0.706000													29	63					0	0	0.001512	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	G	A	rs146377316		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:21230565G>A	ENST00000233242.1	-	26	9302	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3059					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3059C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGAAAACGAACTTTCAAA	0.403000													120	150					0	0	0.003610	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442103	145442103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:145442103G>A	ENST00000511217.1	+	9	2081	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E677K|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	677							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCCAGCCTGAAGCAGCGTC	0.587000													24	19					0	0	0.003330	0	0
MARCO	8685	broad.mit.edu	37	2	119748178	119748178	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119748178G>A	ENST00000541757.1	+	14	1223	c.843G>A	c.(841-843)caG>caA	p.Q281Q	MARCO_ENST00000327097.4_Silent_p.Q359Q			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	359	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCAAGGACAGCAAGGAAGAA	0.463000													16	27					0	0	0.004007	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942935	12942935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12942935C>T	ENST00000235349.5	-	2	351	c.281G>A	c.(280-282)gGg>gAg	p.G94E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	94										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACGAACCCCTAGGTTAAG	0.627000													11	23					0	0	0.000978	0	0
ZNF579	163033	broad.mit.edu	37	19	56090040	56090040	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56090040G>A	ENST00000325421.4	-	2	994	c.966C>T	c.(964-966)ccC>ccT	p.P322P		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCAGGCTGAGGGGGCCGTGGA	0.751000													8	27					0	0	0.003080	0	0
LILRP2	79166	broad.mit.edu	37	19	55220719	55220719	+	RNA	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:55220719G>A	ENST00000413439.1	+	0	808																											CTGCAGGAAGGGGGTCGGCTC	0.617000													4	10					0	0	0.000602	0	0
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:240370099G>A	ENST00000319653.9	+	5	2217	c.1986_splice	c.e5-1	p.E663_splice		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	663					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E806K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393000													11	23					0	0	0.000978	0	0
TRIM8	81603	broad.mit.edu	37	10	104416142	104416142	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:104416142G>A	ENST00000302424.6	+	5	1170	c.1048_splice	c.e5+1	p.G350_splice	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	350						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AATGCTAGAAGGTGAGGGTGG	0.602000													3	17					0	0	0.004672	0	0
ZNF480	147657	broad.mit.edu	37	19	52824895	52824895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:52824895C>T	ENST00000595962.1	+	5	458	c.392C>T	c.(391-393)tCc>tTc	p.S131F	ZNF480_ENST00000334564.7_Missense_Mutation_p.S88F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S54F|ZNF480_ENST00000490272.1_Missense_Mutation_p.P46S	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CTTGGAGTATCCTTTCACTTA	0.373000													11	30					0	0	0.001368	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657512	144657512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:144657512G>A	ENST00000449291.2	-	11	1589	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.S432F|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Missense_Mutation_p.S432F|NAPRT1_ENST00000435154.3_Missense_Mutation_p.S432F			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	432					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATGAGTGGAGACCCTGTGTG	0.662000													38	27					0	0	0.006999	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969256	140969256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:140969256C>T	ENST00000298296.1	+	4	583	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	195	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTTTCTTCTCCTCAA	0.443000													51	44					0	0	0.003610	0	0
CYP2C18	1562	broad.mit.edu	37	10	96448009	96448009	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:96448009G>A	ENST00000285979.6	+	3	658	c.459G>A	c.(457-459)gtG>gtA	p.V153V	CYP2C18_ENST00000339022.5_Silent_p.V153V|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCTGCCTTGTGGAGGAGTTGA	0.408000													16	15					0	0	0.007413	0	0
DCDC1	341019	broad.mit.edu	37	11	31086634	31086634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:31086634C>T	ENST00000597505.1	-	17	2364	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGTGATACTCTGTCTGGGTC	0.453000													8	10					0	0	0.003080	0	0
ACTL9	284382	broad.mit.edu	37	19	8808059	8808059	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:8808059G>A	ENST00000324436.3	-	1	1113	c.993C>T	c.(991-993)cgC>cgT	p.R331R		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	331						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCAAGTCCGCGCGCATCTCCA	0.667000													14	46					0	0	0.003163	0	0
SHB	6461	broad.mit.edu	37	9	37955905	37955905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:37955905G>A	ENST00000377707.3	-	4	1766	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	401	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGGACGGCAGGATCCACCCTT	0.572000													16	18					0	0	0.007413	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393586	139393586	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:139393586G>A	ENST00000277541.6	-	32	6135	c.6060C>T	c.(6058-6060)gaC>gaT	p.D2020D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2020					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGTTGACGTCGGCGTGTG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			59	11					0	0	0.003610	0	0
MME	4311	broad.mit.edu	37	3	154898230	154898230	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:154898230G>A	ENST00000460393.1	+	23	2355	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	MME_ENST00000462745.1_Silent_p.K745K|MME_ENST00000360490.2_Silent_p.K745K|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Silent_p.K745K|MME_ENST00000492661.1_Silent_p.K745K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	745					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCCAGAAAAGAAGTGCCGGG	0.418000													8	53					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													30	24					0	0	0.002445	0	0
GRIA3	2892	broad.mit.edu	37	X	122318472	122318472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:122318472G>A	ENST00000264357.5	+	1	377	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GRIA3_ENST00000371266.1_Missense_Mutation_p.G29R|GRIA3_ENST00000371264.3_Missense_Mutation_p.G29R|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.G29R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G29R|GRIA3_ENST00000371251.1_Missense_Mutation_p.G29R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	29					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTCTCACGGAGGATTCCCCAA	0.587000													29	62					0	0	0.006320	0	0
MAP1B	4131	broad.mit.edu	37	5	71496137	71496137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:71496137G>A	ENST00000296755.7	+	5	7253	c.6955G>A	c.(6955-6957)Gag>Aag	p.E2319K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2319						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAGACAAGGAGACCAAGAA	0.517000													25	28					0	0	0.002780	0	0
MUC13	56667	broad.mit.edu	37	3	124632432	124632432	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:124632432T>C	ENST00000311075.3	-	7	1096	c.1058A>G	c.(1057-1059)aAc>aGc	p.N353S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	353	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GCTCTGTGGGTTAGGCCTTTG	0.433000													11	37					0	0	0.000673	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576755	4576755	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:4576755C>T	ENST00000262352.3	+	10	1421	c.1185C>T	c.(1183-1185)atC>atT	p.I395I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	395					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GGCAGATCATCACCATCAGGT	0.488000													13	48					0	0	0.002450	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93150150	93150150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:93150150G>A	ENST00000344636.3	+	8	867	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	228	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTCTATGAAGGAAAATTAACT	0.383000													28	7					0	0	0.001786	0	0
RAB39B	116442	broad.mit.edu	37	X	154493472	154493472	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:154493472G>A	ENST00000369454.3	-	1	402	c.102C>T	c.(100-102)gcC>gcT	p.A34A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	34					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGAAACCTGGGCAAAGCGAC	0.597000													27	80					0	0	0.007291	0	0
PAPPA	5069	broad.mit.edu	37	9	119097323	119097323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:119097323G>A	ENST00000328252.3	+	13	3950	c.3581G>A	c.(3580-3582)aGa>aAa	p.R1194K	PAPPA_ENST00000534838.1_Missense_Mutation_p.R232K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1194					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTGCCAGAGAGGGGAGACC	0.622000													24	6					0	0	0.003330	0	0
KCNK9	51305	broad.mit.edu	37	8	140630522	140630522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:140630522C>T	ENST00000520439.1	-	2	1167	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	KCNK9_ENST00000303015.1_Missense_Mutation_p.M368I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	368						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCGGCGTTTCATCAGCCTCT	0.468000													66	50					0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182766562	182766562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:182766562C>T	ENST00000431877.2	+	8	961	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SSFA2_ENST00000428267.2_Missense_Mutation_p.S108F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S261F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S261F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	261						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCAAGTCTCCGGGACGCCC	0.428000													15	32					0	0	0.004990	0	0
OR5K4	403278	broad.mit.edu	37	3	98073149	98073149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:98073149C>T	ENST00000354924.2	+	1	452	c.452C>T	c.(451-453)gCt>gTt	p.A151V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTTCAAAGCTGGAAACCTG	0.458000													11	58					0	0	0.000978	0	0
XIRP2	129446	broad.mit.edu	37	2	168100225	168100225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:168100225G>A	ENST00000409195.1	+	9	2412	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E775K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E553K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	600					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGGATGTTTGAAACACAGCC	0.403000													13	12					0	0	0.003163	0	0
ACER1	125981	broad.mit.edu	37	19	6312166	6312166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:6312166C>T	ENST00000301452.4	-	3	421	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	115						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCACCTGTTCCCCCCAAGGAA	0.612000													11	21					0	0	0.001855	0	0
PRG4	10216	broad.mit.edu	37	1	186273345	186273345	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:186273345A>G	ENST00000445192.2	+	5	470	c.425A>G	c.(424-426)aAg>aGg	p.K142R	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.K142R|PRG4_ENST00000367483.4_Missense_Mutation_p.K101R|PRG4_ENST00000367484.3_Missense_Mutation_p.K101R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	142					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCAAACAAGAAGAAGACT	0.393000													20	20					0	0	0.001882	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554238	45554238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:45554238G>A	ENST00000347644.3	+	4	261	c.196G>A	c.(196-198)Gca>Aca	p.A66T	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	66					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTTCAGCAAAGCAAGAAGTTT	0.398000													37	61					0	0	0.001951	0	0
C1QL2	165257	broad.mit.edu	37	2	119915753	119915753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:119915753C>T	ENST00000272520.3	-	1	712	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	31						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GGTCGCAGATCATGCGGCAGG	0.721000										HNSCC(49;0.14)			4	6					0	0	0.000248	0	0
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:92616261C>T	ENST00000298047.6	+	23	12656	c.12639C>T	c.(12637-12639)cgC>cgT	p.R4213R	FAT3_ENST00000533797.1_Silent_p.R548R|FAT3_ENST00000525166.1_Silent_p.R4063R|FAT3_ENST00000409404.2_Silent_p.R4213R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4213					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657000										TCGA Ovarian(4;0.039)			71	112					0	0	0.003610	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145660	25145660	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:25145660C>T	ENST00000332271.5	-	10	1632	c.1216_splice	c.e10+1	p.G406_splice	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Splice_Site_p.G297_splice|PIWIL3_ENST00000527701.1_Splice_Site_p.G297_splice	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	406	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATCAGTACCTGTCATGTGG	0.488000													7	27					0	0	0.004482	0	0
NLRP4	147945	broad.mit.edu	37	19	56369767	56369767	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:56369767C>T	ENST00000301295.6	+	3	1430	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NLRP4_ENST00000346986.5_Silent_p.S336S|NLRP4_ENST00000587891.1_Silent_p.S261S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	336	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTGTTTTCCATATGCCAAA	0.473000													40	32					0	0	0.002222	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885264	88885264	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:88885264C>T	ENST00000319675.3	-	1	1032	c.936G>A	c.(934-936)gtG>gtA	p.V312V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	312										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGGAGTTATTCACATGACCTT	0.527000													15	43					0	0	0.003163	0	0
APC2	10297	broad.mit.edu	37	19	1466440	1466440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:1466440C>T	ENST00000535453.1	+	14	4853	c.3140C>T	c.(3139-3141)cCg>cTg	p.P1047L	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.P773L|APC2_ENST00000233607.2_Missense_Mutation_p.P1047L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1047					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTGCCCCGCTGTCTGTG	0.697000													11	10					0	0	0.002450	0	0
UBQLN1	29979	broad.mit.edu	37	9	86281332	86281332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:86281332G>A	ENST00000376395.4	-	8	1788	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	UBQLN1_ENST00000257468.7_Intron	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	422					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGCAAATAGGGGATTATTCAG	0.383000													30	5					0	0	0.002445	0	0
THEMIS	387357	broad.mit.edu	37	6	128134279	128134279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:128134279C>T	ENST00000368250.1	-	5	1768	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	THEMIS_ENST00000368248.2_Missense_Mutation_p.E503K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E503K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E468K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	503	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACAGGAATTTCCCAGCACTCC	0.483000													35	4					0	0	0.003755	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539521	133539521	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:133539521G>A	ENST00000409261.1	-	14	5236	c.4863C>T	c.(4861-4863)ctC>ctT	p.L1621L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1621L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1621							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTGTTCAAGAGTTCCGTCA	0.453000													7	73					0	0	0.001984	0	0
MARCH4	57574	broad.mit.edu	37	2	217142558	217142558	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:217142558C>T	ENST00000273067.4	-	3	2468	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	234						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGAACCTTCTCAATGACCG	0.567000													19	30					0	0	0.001882	0	0
MORC1	27136	broad.mit.edu	37	3	108724101	108724101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:108724101G>A	ENST00000232603.5	-	19	1911	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	MORC1_ENST00000483760.1_Missense_Mutation_p.S589L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	610					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCAAAGGATGAAAGAGATTC	0.343000													27	20					0	0	0.005443	0	0
SIRPG	55423	broad.mit.edu	37	20	1638346	1638346	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:1638346G>A	ENST00000303415.3	-	1	79	c.15C>T	c.(13-15)gcC>gcT	p.A5A	SIRPG_ENST00000344103.4_Silent_p.A5A|SIRPG_ENST00000216927.4_Silent_p.A5A|SIRPG_ENST00000381583.2_Silent_p.A5A	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	5					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGGCCAGGAGGCTGGGACAG	0.552000													39	52					0	0	0.007835	0	0
TLL2	7093	broad.mit.edu	37	10	98205876	98205876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:98205876C>T	ENST00000357947.3	-	3	561	c.336G>A	c.(334-336)atG>atA	p.M112I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	112					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGCCAGTGTCCATGGCTGTGG	0.502000													15	71					0	0	0.004007	0	0
GDPD4	220032	broad.mit.edu	37	11	76980019	76980019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:76980019C>T	ENST00000315938.4	-	8	824	c.574G>A	c.(574-576)Gag>Aag	p.E192K	GDPD4_ENST00000376217.2_Missense_Mutation_p.E192K	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	192					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCCAAATTCTCCTTCTCCTGA	0.453000													19	48					0	0	0.001216	0	0
CSMD3	114788	broad.mit.edu	37	8	113649119	113649119	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:113649119C>T	ENST00000297405.5	-	22	3886	c.3642G>A	c.(3640-3642)ctG>ctA	p.L1214L	CSMD3_ENST00000352409.3_Silent_p.L1214L|CSMD3_ENST00000343508.3_Silent_p.L1174L|CSMD3_ENST00000455883.2_Silent_p.L1110L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1214	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTTCCTTCCAGTCGATAAC	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	12					0	0	0.006122	0	0
CNR1	1268	broad.mit.edu	37	6	88853950	88853950	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:88853950G>A	ENST00000537554.1	-	2	4606	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CNR1_ENST00000535130.1_Silent_p.I348I|CNR1_ENST00000468898.1_Silent_p.I315I|CNR1_ENST00000428600.2_Silent_p.I348I|CNR1_ENST00000369499.2_Silent_p.I348I|CNR1_ENST00000549716.1_Silent_p.I287I|CNR1_ENST00000369501.2_Silent_p.I348I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Silent_p.I348I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	348					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACACCACCAGGATCAGGACCA	0.517000													85	18					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394212	233394212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:233394212G>A	ENST00000258229.8	-	5	1630	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	466						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCAGAACACTGATTGGTGGAT	0.572000													16	23					0	0	0.004007	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834363	101834363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:101834363C>T	ENST00000263468.8	+	6	2867	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S667F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	866							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATGCTTGTTCTGACCTAGTC	0.383000													8	16					0	0	0.003080	0	0
C4orf40	401137	broad.mit.edu	37	4	71024129	71024129	+	Missense_Mutation	SNP	C	C	T	rs147899116	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:71024129C>T	ENST00000344526.5	+	3	349	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	C4orf40_ENST00000502294.1_Missense_Mutation_p.R54C|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	54						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCTTTATTATCGCCCAGTGAA	0.443000													47	85					0	0	0.003610	0	0
NPHS1	4868	broad.mit.edu	37	19	36322271	36322271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:36322271G>A	ENST00000378910.5	-	26	3313	c.3314C>T	c.(3313-3315)tCg>tTg	p.S1105L	NPHS1_ENST00000353632.6_Missense_Mutation_p.S1065L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1105					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCTCTTCCGACCTTCCAGG	0.597000													46	28					0	0	0.003610	0	0
GYPA	2993	broad.mit.edu	37	4	145032548	145032548	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:145032548C>T	ENST00000360771.4	-	7	567	c.452G>A	c.(451-453)tGa>tAa	p.*151*	GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512789.1_Silent_p.*86*|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.*138*|GYPA_ENST00000324022.10_Silent_p.*118*|GYPA_ENST00000535709.1_Silent_p.*125*|GYPA_ENST00000504786.1_Silent_p.*119*|GYPA_ENST00000503627.1_Silent_p.*106*	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	0					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AACAGATTCTCATTGATCACT	0.323000													8	14					0	0	0.006214	0	0
TEKT5	146279	broad.mit.edu	37	16	10788190	10788190	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:10788190T>A	ENST00000283025.2	-	1	612	c.541A>T	c.(541-543)Aat>Tat	p.N181Y		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	181					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCACCTCATTGGCCGCGCAC	0.572000													98	132					0	0	0.003610	0	0
DLG5	9231	broad.mit.edu	37	10	79570914	79570914	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:79570914G>A	ENST00000372391.2	-	23	4406	c.4401C>T	c.(4399-4401)atC>atT	p.I1467I	DLG5_ENST00000372388.2_Silent_p.I1127I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1467					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCAGTGGGTCGATGACAGATG	0.657000													27	22					0	0	0.001512	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353724	37353724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:37353724G>A	ENST00000217420.1	+	1	620	c.357G>A	c.(355-357)tgG>tgA	p.W119*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	119					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCACGGCGTGGGAGGCAGGCT	0.682000													72	86					0	0	0.003610	0	0
OR6C6	283365	broad.mit.edu	37	12	55688987	55688987	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:55688987G>A	ENST00000358433.2	-	1	29	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTAGGAGAATGAACTCTATTT	0.323000													20	6					0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100676630	100676630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100676630G>A	ENST00000306151.4	+	3	1997	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	645	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483000													173	62					0	0	0.003610	0	0
PTPRN	5798	broad.mit.edu	37	2	220161722	220161722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:220161722G>A	ENST00000295718.2	-	15	2461	c.2221C>T	c.(2221-2223)Cct>Tct	p.P741S	PTPRN_ENST00000423636.2_Missense_Mutation_p.P651S|PTPRN_ENST00000409251.3_Missense_Mutation_p.P712S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	741	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGAAGTCAGGATGCCGGTTC	0.637000													48	72					0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24324458	24324458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:24324458C>T	ENST00000175238.6	+	6	619	c.536C>T	c.(535-537)aCt>aTt	p.T179I	ADAM7_ENST00000380789.1_Missense_Mutation_p.T179I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.T179I|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	179					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCAGAAAAACTGTTCCAGGG	0.348000													47	25					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11687708	11687708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:11687708G>A	ENST00000262442.3	+	41	7981	c.7913G>A	c.(7912-7914)gGa>gAa	p.G2638E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2638E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2638	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAAGCTCGGAAACTTCCCG	0.562000													85	22					0	0	0.003610	0	0
SHANK1	50944	broad.mit.edu	37	19	51170824	51170824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:51170824C>T	ENST00000293441.1	-	22	4411	c.4393G>A	c.(4393-4395)Gag>Aag	p.E1465K	SHANK1_ENST00000359082.3_Missense_Mutation_p.E1456K|SHANK1_ENST00000391813.1_Missense_Mutation_p.E852K|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1473K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1465					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCGGGGGCTCCGTCCCCAGC	0.751000													6	9					0	0	0.001984	0	0
PLSCR4	57088	broad.mit.edu	37	3	145918825	145918825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:145918825C>T	ENST00000354952.2	-	5	634	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PLSCR4_ENST00000446574.2_Missense_Mutation_p.E132K|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E132K|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	132					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TACATACTTTCCAGAGGCTCA	0.318000													13	9					0	0	0.001855	0	0
FGD5	152273	broad.mit.edu	37	3	14862658	14862658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:14862658G>A	ENST00000285046.5	+	1	2190	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	FGD5_ENST00000543601.1_Missense_Mutation_p.E453K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	694					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGATTCTGGAAGTTGACCG	0.517000													22	16					0	0	0.001882	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872073	51872073	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:51872073C>T	ENST00000371497.5	+	2	2963	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	TSHZ2_ENST00000329613.6_Silent_p.I689I|TSHZ2_ENST00000603338.2_Silent_p.I689I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	692					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGCCATGCATCAACCCACTCA	0.627000													26	24					0	0	0.003954	0	0
DNAH10	196385	broad.mit.edu	37	12	124418052	124418052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:124418052G>A	ENST00000409039.3	+	76	13142	c.13117G>A	c.(13117-13119)Gga>Aga	p.G4373R	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4373					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGCGGGCGGGACAAGGTAC	0.577000													31	17					0	0	0.002836	0	0
AKAP13	11214	broad.mit.edu	37	15	86125290	86125290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:86125290G>A	ENST00000394518.2	+	7	4086	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E1331K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1331					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGAAGGGAGGAGCCAGAGAA	0.498000													11	55					0	0	0.001855	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543112	34543112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:34543112G>A	ENST00000354181.3	-	11	1972	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	SLC12A6_ENST00000560611.1_Missense_Mutation_p.P494S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P306S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P485S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P479S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P435S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P306S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P443S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.P494S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P435S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	494					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTAACAGAGGGAAAGAAGATT	0.443000													10	34					0	0	0.000673	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104191	142104191	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142104191C>T	ENST00000390379.1	-	0	273																											AGCGGGAAATCCTCTGTGTTT	0.532000													33	100					0	0	0.002836	0	0
ASAP1	50807	broad.mit.edu	37	8	131127951	131127951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:131127951G>A	ENST00000357668.1	-	22	2122	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	ASAP1_ENST00000518721.1_Missense_Mutation_p.P699S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	699					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGGACGTGTGGATTGAACTTT	0.403000													98	55					0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60213184	60213184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:60213184G>A	ENST00000267484.5	-	2	592	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	86					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CATGGCACTGGAAACACCTGC	0.517000													31	21					0	0	0.003271	0	0
KIFC1	3833	broad.mit.edu	37	6	33372839	33372839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:33372839G>A	ENST00000428849.2	+	7	1417	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	323	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTCCTGCCGGGGGAGCCCAC	0.652000													51	7					0	0	0.003610	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000542996.2_Silent_p.I298I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000													22	8					0	0	0.003330	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783640	140783640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140783640G>A	ENST00000573521.1	+	1	1121	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATGACCGAGACTCCGGG	0.408000													20	19					0	0	0.001216	0	0
NYAP1	222950	broad.mit.edu	37	7	100085872	100085872	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:100085872C>T	ENST00000423930.1	+	4	687	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NYAP1_ENST00000454988.1_Silent_p.F119F|NYAP1_ENST00000300179.2_Silent_p.F176F			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	176																	CTGTCTCCTTCGATGAGTCCT	0.657000													87	59					0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028385	21028385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:21028385G>A	ENST00000381545.3	+	9	1163	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G315E|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G315E|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.G315E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	315					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCAACCAAGGAAAAAATGTT	0.299000													12	11					0	0	0.000978	0	0
RP1	6101	broad.mit.edu	37	8	55541144	55541144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:55541144G>A	ENST00000220676.1	+	4	4850	c.4702G>A	c.(4702-4704)Gaa>Aaa	p.E1568K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1568					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAACTATGGAAACTGGAAG	0.373000													9	15					0	0	0.004482	0	0
FRYL	285527	broad.mit.edu	37	4	48622756	48622756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:48622756G>A	ENST00000537810.1	-	6	818	c.214C>T	c.(214-216)Cct>Tct	p.P72S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.P72S|FRYL_ENST00000358350.4_Missense_Mutation_p.P72S|FRYL_ENST00000503238.1_Missense_Mutation_p.P72S			O94915	FRYL_HUMAN	FRY-like	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTAAGGAAGGGAGACAGTGC	0.413000													9	33					0	0	0.004482	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211688	55211688	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:55211688G>A	ENST00000201031.2	+	6	1188	c.945G>A	c.(943-945)agG>agA	p.R315R	TFAP2C_ENST00000544508.1_Silent_p.R146R	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	315	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ATTTGGCTAGGGACTTTGCCT	0.443000													46	56					0	0	0.003610	0	0
CHRD	8646	broad.mit.edu	37	3	184104473	184104473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:184104473G>A	ENST00000204604.1	+	16	2372	c.2126G>A	c.(2125-2127)gGg>gAg	p.G709E	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.G669E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G709E	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	709	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTTCGAGGGGCAGCAGCGC	0.701000													18	10					0	0	0.001882	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412625	20412625	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:20412625G>A	ENST00000375108.3	+	3	358	c.90G>A	c.(88-90)gaG>gaA	p.E30E	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	30					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CAATGATCGAGAAGGTGACAG	0.597000													11	37					0	0	0.000978	0	0
SRRM4	84530	broad.mit.edu	37	12	119540113	119540113	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:119540113C>T	ENST00000267260.4	+	2	592	c.204C>T	c.(202-204)gcC>gcT	p.A68A	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	68					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCATCTGGCCACCGAGCCCT	0.542000													13	5					0	0	0.002450	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605519	159605519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:159605519C>T	ENST00000337808.6	+	5	1596	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	SCHIP1_ENST00000482804.1_Missense_Mutation_p.S113F|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.S416F|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.S108F|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.S300F|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.S327F|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.S389F|SCHIP1_ENST00000445224.2_Missense_Mutation_p.S97F	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		340						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TCTTCCTATTCTGATAGAGAC	0.468000													97	77					0	0	0.003610	0	0
COL13A1	1305	broad.mit.edu	37	10	71657230	71657230	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:71657230G>A	ENST00000356340.3	+	12	1193		c.e12-1		COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398973.3_Splice_Site|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000398968.3_Intron|COL13A1_ENST00000398978.3_Splice_Site|COL13A1_ENST00000398972.3_Splice_Site			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TCCCAAACTAGGAGTGCCTAA	0.617000													11	8					0	0	0.002450	0	0
GRIA1	2890	broad.mit.edu	37	5	153143996	153143996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:153143996C>T	ENST00000285900.5	+	12	2169	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	GRIA1_ENST00000448073.4_Missense_Mutation_p.S619F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S529F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S540F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S619F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S609F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	609					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTGCAGGTCCCTGTCTGGT	0.587000													12	26					0	0	0.001368	0	0
MUC4	4585	broad.mit.edu	37	3	195515992	195515992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:195515992C>T	ENST00000463781.3	-	2	2918	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G820E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	825	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGATATTCCTTCGCTTCC	0.582000													11	66					0	0	0.002450	0	0
TACC2	10579	broad.mit.edu	37	10	123970633	123970633	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:123970633G>A	ENST00000369005.1	+	9	7033	c.6693G>A	c.(6691-6693)agG>agA	p.R2231R	TACC2_ENST00000260733.3_Silent_p.R309R|TACC2_ENST00000369004.3_Silent_p.R309R|TACC2_ENST00000368999.1_Silent_p.R309R|TACC2_ENST00000334433.3_Silent_p.R2231R|TACC2_ENST00000453444.2_Silent_p.R2235R|TACC2_ENST00000360561.3_Silent_p.R309R|TACC2_ENST00000515603.1_Silent_p.R2186R|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.R377R|TACC2_ENST00000513429.1_Silent_p.R377R|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515273.1_Silent_p.R2235R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2231						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGTCGGGAGGAAAACGCTGC	0.647000													16	10					0	0	0.004990	0	0
MROH2B	133558	broad.mit.edu	37	5	41012771	41012771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:41012771C>T	ENST00000399564.4	-	30	3499	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E572K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGAGGCTCTCCAGACCGTCC	0.468000													11	31					0	0	0.000978	0	0
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:7586077C>T	ENST00000379802.3	+	24	8923	c.8582C>T	c.(8581-8583)tCc>tTc	p.S2861F	DSP_ENST00000418664.2_Missense_Mutation_p.S2262F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483000													107	23					0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30977225	30977225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:30977225G>A	ENST00000262519.8	+	8	2709	c.2023G>A	c.(2023-2025)Ggg>Agg	p.G675R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAGTGGGGAGGGATGCCCAT	0.632000													43	107					0	0	0.002522	0	0
MARK1	4139	broad.mit.edu	37	1	220771689	220771689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:220771689G>A	ENST00000366918.4	+	4	923	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.R109Q			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	109	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGAGAAGTACGAATAATGAAG	0.229000													13	35					0	0	0.003163	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947023	101947023	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:101947023C>T	ENST00000394854.3	-	14	2248	c.1565G>A	c.(1564-1566)tGa>tAa	p.*522*	PPP3CA_ENST00000507176.1_Silent_p.*424*|PPP3CA_ENST00000523694.2_Silent_p.*455*|PPP3CA_ENST00000394853.4_Silent_p.*512*|PPP3CA_ENST00000323055.6_Silent_p.*470*|PPP3CA_ENST00000512215.1_Silent_p.*290*	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	0					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGGAAGTGGTCACTGAATATT	0.448000													23	65					0	0	0.002780	0	0
PTPRG	5793	broad.mit.edu	37	3	61734583	61734583	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:61734583C>T	ENST00000474889.1	+	2	494	c.117C>T	c.(115-117)caC>caT	p.H39H	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Silent_p.H39H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	39					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H39H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGCCCTGCACGAGAATAGAC	0.557000													14	16					0	0	0.003163	0	0
MAP3K11	4296	broad.mit.edu	37	11	65374967	65374967	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:65374967C>T	ENST00000309100.3	-	5	1748	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	MAP3K11_ENST00000530153.1_Silent_p.E164E	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	421	Leucine-zipper 1.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						TCAGCTCCTCCTCGCGGCTCA	0.711000													7	10					0	0	0.004482	0	0
ZHX3	23051	broad.mit.edu	37	20	39831445	39831445	+	Silent	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:39831445A>C	ENST00000309060.3	-	4	2527	c.2112T>G	c.(2110-2112)ggT>ggG	p.G704G	ZHX3_ENST00000560361.1_Silent_p.G704G|ZHX3_ENST00000432768.2_Silent_p.G704G|ZHX3_ENST00000559234.1_Silent_p.G704G|ZHX3_ENST00000544979.2_Silent_p.G704G|ZHX3_ENST00000540170.1_Silent_p.G704G|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	704					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCATTTTCACCAGAGACCC	0.527000													24	122					0	0	0.003954	0	0
HUWE1	10075	broad.mit.edu	37	X	53619423	53619423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:53619423C>T	ENST00000342160.3	-	32	4364	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D1303N|HUWE1_ENST00000218328.8_Missense_Mutation_p.D1303N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1303					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCCCTGTATCCTCTTCTCCT	0.562000													24	68					0	0	0.006320	0	0
TMEM117	84216	broad.mit.edu	37	12	44770458	44770458	+	Silent	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:44770458T>C	ENST00000266534.3	+	7	976	c.849T>C	c.(847-849)atT>atC	p.I283I	TMEM117_ENST00000551577.1_Intron|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.I179I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	283						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AGTTCAAGATTCCTTTCTTCC	0.383000													40	7					0	0	0.007835	0	0
FOXR2	139628	broad.mit.edu	37	X	55650474	55650474	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:55650474C>T	ENST00000339140.3	+	1	642	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	110					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTCTCCTTTCCCTCAGCCCC	0.532000													5	13					0	0	0.000602	0	0
INTS8	55656	broad.mit.edu	37	8	95869077	95869077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:95869077C>T	ENST00000523731.1	+	15	1958	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Nonsense_Mutation_p.Q609*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	609					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGCTTCGTCAGGTCATGCT	0.463000													396	233					0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125072424	125072424	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:125072424C>A	ENST00000522917.1	+	23	3084	c.2878C>A	c.(2878-2880)Cct>Act	p.P960T	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P960T|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	960						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCGGTAGGTTCCTCCTTCTGG	0.547000													13	58					1.49906e-05	1.91116e-05	0.002450	1	0
SLC5A6	8884	broad.mit.edu	37	2	27423910	27423910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27423910G>A	ENST00000310574.3	-	16	2193	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S	SLC5A6_ENST00000408041.1_Missense_Mutation_p.P574S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	574					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGGACAACGGAAGGAGGGAC	0.577000													29	27					0	0	0.002836	0	0
ZNF229	7772	broad.mit.edu	37	19	44934632	44934632	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:44934632G>A	ENST00000291187.4	-	6	628	c.306C>T	c.(304-306)atC>atT	p.I102I	ZNF229_ENST00000588931.1_Silent_p.I108I|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I108M(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCTCTTCCCAGATTTTGCATG	0.428000													11	33					0	0	0.000978	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452266	43452266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:43452266G>A	ENST00000282388.3	-	2	970	c.677C>T	c.(676-678)tCg>tTg	p.S226L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	226					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ggcgccccccgacggcgcggg	0.706000													8	5					0	0	0.003080	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088094	92088094	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:92088094C>T	ENST00000256343.3	-	19	2274	c.2118G>A	c.(2116-2118)agG>agA	p.R706R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	706					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCGTCCATTCCTTTGCCCAA	0.368000													26	47					0	0	0.005443	0	0
NRIP3	56675	broad.mit.edu	37	11	9009685	9009685	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:9009685T>A	ENST00000309166.3	-	2	432	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	NRIP3_ENST00000531090.1_Missense_Mutation_p.M107L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	107					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACCAAAATCATGTCATCCTCC	0.493000													14	23					0	0	0.003163	0	0
EPHA4	2043	broad.mit.edu	37	2	222307622	222307622	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:222307622G>A	ENST00000281821.2	-	11	2042	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	EPHA4_ENST00000392071.4_Silent_p.F616F|EPHA4_ENST00000409854.1_Silent_p.F667F|EPHA4_ENST00000409938.1_Silent_p.F667F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCTCACTCAGGAAGTCTCTCC	0.498000													32	49					0	0	0.001786	0	0
ENGASE	64772	broad.mit.edu	37	17	77079573	77079573	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:77079573C>T	ENST00000579016.1	+	9	1152	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	384						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGTTCTGGGGCCGACTGGAGC	0.612000													24	22					0	0	0.004656	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230589	69230589	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:69230589A>C	ENST00000542259.1	-	22	2601	c.2150T>G	c.(2149-2151)gTt>gGt	p.V717G	FRMD4B_ENST00000398540.3_Missense_Mutation_p.V771G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.V423G			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	771						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGAAGTAGAAACATTCTGTTT	0.488000													16	45					0	0	0.004007	0	0
ABHD1	84696	broad.mit.edu	37	2	27353480	27353480	+	Silent	SNP	G	G	A	rs147790643	byFrequency	TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:27353480G>A	ENST00000316470.4	+	9	1200	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	362						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGCTTCCTGGAAGGGCTGC	0.632000													41	48					0	0	0.006230	0	0
PPP1CB	5500	broad.mit.edu	37	2	29001759	29001759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:29001759G>A	ENST00000395366.2	+	3	541	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PPP1CB_ENST00000296122.6_Missense_Mutation_p.G90E|PPP1CB_ENST00000358506.2_Missense_Mutation_p.G90E	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	90					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTTTTCTTAGGAGATTATGTG	0.348000													17	40					0	0	0.004990	0	0
ALPK3	57538	broad.mit.edu	37	15	85402498	85402498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:85402498G>A	ENST00000258888.5	+	7	4615	c.4448G>A	c.(4447-4449)cGg>cAg	p.R1483Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1483	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGAAGATTCGGGTGGAGCAG	0.567000													39	21					0	0	0.002222	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337098	162337098	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:162337098C>T	ENST00000493151.1	+	2	2844	c.477C>T	c.(475-477)ctC>ctT	p.L159L	RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Silent_p.L449L|NOS1AP_ENST00000361897.5_Silent_p.L454L|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	454	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GTCTGGAGCTCATCAAGTTCC	0.677000													16	21					0	0	0.003163	0	0
SCN10A	6336	broad.mit.edu	37	3	38770130	38770130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38770130C>T	ENST00000449082.2	-	15	2542	c.2543G>A	c.(2542-2544)gGa>gAa	p.G848E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	848					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AATCCACTCTCCACAGAGGAT	0.512000													25	15					0	0	0.003330	0	0
KCNK3	3777	broad.mit.edu	37	2	26951294	26951294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:26951294G>A	ENST00000302909.3	+	2	1168	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	348					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTCGCCGGGAGGGGGCGGC	0.692000													8	10					0	0	0.004482	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:57611094G>A	ENST00000371236.2	-	3	339	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_ENST00000371230.1_Missense_Mutation_p.R26C|DAB1_ENST00000439789.2_Missense_Mutation_p.R26C|DAB1_ENST00000420954.2_Missense_Mutation_p.R26C|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.R26C|DAB1_ENST00000414851.2_Missense_Mutation_p.R26C|DAB1_ENST00000371234.4_Missense_Mutation_p.R26C			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000													17	20					0	0	0.004990	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469966	52469966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:52469966G>A	ENST00000231721.2	-	16	2001	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	668	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGAGCCAGGCGGACCACAGTC	0.657000													54	33					0	0	0.003610	0	0
ZNF468	90333	broad.mit.edu	37	19	53352344	53352344	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53352344G>A	ENST00000595646.1	-	3	258	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000243639.4_Silent_p.S46S|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTCACCCAGGGAGACGAGGT	0.473000													71	34					0	0	0.003610	0	0
PDDC1	347862	broad.mit.edu	37	11	774016	774016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:774016G>A	ENST00000319863.8	-	3	260	c.239C>T	c.(238-240)tCc>tTc	p.S80F	PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.S80F|PDDC1_ENST00000526325.1_Missense_Mutation_p.S80F|PDDC1_ENST00000442059.2_Missense_Mutation_p.S30F|PDDC1_ENST00000397472.2_Missense_Mutation_p.S80F	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	80						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCATCGATGGACTCGAGCTT	0.602000													7	29					0	0	0.001984	0	0
THSD7A	221981	broad.mit.edu	37	7	11485935	11485935	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:11485935C>T	ENST00000423059.3	-	13	3068	c.2817G>A	c.(2815-2817)aaG>aaA	p.K939K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	939	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACATTTTTCCTTCTTTTTAC	0.353000										HNSCC(18;0.044)			37	14					0	0	0.006230	0	0
CCDC43	124808	broad.mit.edu	37	17	42759460	42759460	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:42759460G>A	ENST00000315286.8	-	3	347	c.339C>T	c.(337-339)atC>atT	p.I113I	CCDC43_ENST00000457422.2_Silent_p.I113I|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Silent_p.I113I	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	113										lung(2)	2		Prostate(33;0.0322)				GCTTTACTACGATTTGTGCCT	0.483000													113	14					0	0	0.003610	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027171	92027171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:92027171C>T	ENST00000265742.3	+	19	2906	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	844							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGACTCTCTTCAGGTAGCCTT	0.488000													60	41					0	0	0.003610	0	0
ANO4	121601	broad.mit.edu	37	12	101493435	101493435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101493435G>A	ENST00000392979.3	+	21	2342	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	ANO4_ENST00000550015.1_Missense_Mutation_p.E216K|ANO4_ENST00000299222.9_Missense_Mutation_p.E216K|ANO4_ENST00000392977.3_Missense_Mutation_p.E696K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	696						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCACAATGGGAAAAGGACTA	0.343000										HNSCC(74;0.22)			25	7					0	0	0.003954	0	0
PER1	5187	broad.mit.edu	37	17	8051348	8051348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:8051348C>T	ENST00000317276.4	-	10	1438	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	PER1_ENST00000581082.1_Missense_Mutation_p.D381N|PER1_ENST00000354903.5_Missense_Mutation_p.D385N	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	401	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGGGTCGGTCCTCAGGATGC	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					17	3					0	0	0.001216	0	0
DNAH3	55567	broad.mit.edu	37	16	20976069	20976069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:20976069C>T	ENST00000261383.3	-	53	9136	c.9137G>A	c.(9136-9138)gGg>gAg	p.G3046E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3046	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATGGGATCCCCTAACGTGTG	0.517000													14	27					0	0	0.002450	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045333	142045333	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:142045333C>T	ENST00000390392.3	+	0	82																											GGACCCCAGTCAGAGGCCCCA	0.602000													45	101					0	0	0.003214	0	0
CMYA5	202333	broad.mit.edu	37	5	79030492	79030492	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:79030492C>T	ENST00000446378.2	+	2	5935	c.5904C>T	c.(5902-5904)tcC>tcT	p.S1968S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1968						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGATACTTCCAGTGGTAATA	0.413000													9	31					0	0	0.006214	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198832	170198832	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:170198832G>A	ENST00000231706.4	-	7	1554	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	413						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGAGCGTGCCGATAGACATCA	0.537000													4	46					0	0	0.001168	0	0
C10orf71	118461	broad.mit.edu	37	10	50532442	50532442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:50532442G>A	ENST00000374144.3	+	3	2140	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E618K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	618										endometrium(1)	1						TGAGAACAAGGAGGTGGAAGG	0.552000													6	4					0	0	0.001168	0	0
FBXL13	222235	broad.mit.edu	37	7	102518011	102518011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:102518011C>T	ENST00000393772.2	-	16	1964	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	FBXL13_ENST00000379305.3_Missense_Mutation_p.R513Q|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.R513Q|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.R513Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.R513Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.R513Q			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCACAATTTCGTAAACTCAA	0.323000													47	23					0	0	0.003610	0	0
ACKR2	1238	broad.mit.edu	37	3	42906050	42906050	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:42906050A>T	ENST00000422265.1	+	3	231	c.56A>T	c.(55-57)aAt>aTt	p.N19I	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.N19I|ACKR2_ENST00000273145.2_Missense_Mutation_p.N19I|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GATTCTGAGAATAGCAGCTTC	0.557000													15	40					0	0	0.002450	0	0
COL7A1	1294	broad.mit.edu	37	3	48621170	48621170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:48621170G>A	ENST00000328333.8	-	39	4429	c.4322C>T	c.(4321-4323)cCt>cTt	p.P1441L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1441L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1441	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTTTCCAGGGGGGCCAAC	0.577000													61	35					0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703668	103703668	+	Missense_Mutation	SNP	G	G	A	rs143059000		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:103703668G>A	ENST00000245312.3	-	4	1296	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	234					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCGCCACAGGAAATATTGTT	0.463000													18	6					0	0	0.002780	0	0
CRY2	1408	broad.mit.edu	37	11	45891260	45891260	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:45891260C>T	ENST00000443527.2	+	7	1171	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	CRY2_ENST00000417225.2_Silent_p.I301I	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	362	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TTGATGCCATCATGACCCAAC	0.652000													17	34					0	0	0.004990	0	0
KDM3B	51780	broad.mit.edu	37	5	137727227	137727227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:137727227C>T	ENST00000314358.5	+	8	2106	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.P292S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCTTCTAATCCTTTCCTGGC	0.488000													21	52					0	0	0.002780	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719215	40719215	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:40719215C>T	ENST00000454349.2	+	23	5683	c.5472C>T	c.(5470-5472)gaC>gaT	p.D1824D	TNRC6B_ENST00000335727.8_Silent_p.D1714D|TNRC6B_ENST00000301923.9_Silent_p.D1020D|TNRC6B_ENST00000402203.1_Silent_p.D1020D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1824					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TACCTGGTGACCTTCTGGGAG	0.507000													23	45					0	0	0.006320	0	0
LRRK2	120892	broad.mit.edu	37	12	40643653	40643653	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:40643653A>T	ENST00000298910.7	+	8	922	c.864A>T	c.(862-864)ttA>ttT	p.L288F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L288F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	288					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCCTGGTATTAAACGAAGTCC	0.383000													27	8					0	0	0.007291	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892396	18892396	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:18892396G>A	ENST00000380548.4	+	26	4992	c.4653G>A	c.(4651-4653)gtG>gtA	p.V1551V	ADAMTSL1_ENST00000380545.5_Silent_p.V252V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1551	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGTGGATGGTGACCTCCTGGT	0.612000													13	1					0	0	0.001368	0	0
TGM6	343641	broad.mit.edu	37	20	2377257	2377257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:2377257G>A	ENST00000202625.2	+	4	591	c.530G>A	c.(529-531)tGg>tAg	p.W177*	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Nonsense_Mutation_p.W177*	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	177					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCCAGGGCTGGAACTACGGG	0.617000													14	27					0	0	0.003163	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682881	50682881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr22:50682881C>T	ENST00000439308.2	-	1	500	c.8G>A	c.(7-9)aGc>aAc	p.S3N	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.S3N	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	3					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGCGTGATGCTGGCCATGCC	0.662000													4	31					0	0	0.000602	0	0
ARPP21	10777	broad.mit.edu	37	3	35778694	35778694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:35778694G>A	ENST00000187397.4	+	16	1940	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	ARPP21_ENST00000458225.1_Missense_Mutation_p.G461E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G461E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G441E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G441E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	495						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AATCCCGATGGAACTCCTGCA	0.547000													16	53					0	0	0.006122	0	0
LDLR	3949	broad.mit.edu	37	19	11216251	11216251	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:11216251G>A	ENST00000558518.1	+	4	856	c.669G>A	c.(667-669)aaG>aaA	p.K223K	LDLR_ENST00000557933.1_Silent_p.K223K|LDLR_ENST00000558013.1_Silent_p.K223K|LDLR_ENST00000535915.1_Silent_p.K182K|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	223	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCGACTGCAAGGACAAATCTG	0.647000													77	140					0	0	0.003610	0	0
NMS	129521	broad.mit.edu	37	2	101086975	101086975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:101086975C>T	ENST00000376865.1	+	1	32	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	9					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCCCCAGTTCCCTCTCATCTT	0.542000													46	78					0	0	0.003610	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874267	31874267	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr21:31874267A>G	ENST00000334151.2	-	1	168	c.142T>C	c.(142-144)Tct>Cct	p.S48P		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	48						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCGAAGCCAGAGCCGTATCCG	0.547000													46	56					0	0	0.003610	0	0
HTR7	3363	broad.mit.edu	37	10	92502257	92502257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:92502257C>T	ENST00000277874.6	-	3	1350	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S	HTR7_ENST00000371719.2_3'UTR|HTR7_ENST00000336152.3_Silent_p.K474K|HTR7_ENST00000371721.3_Silent_p.K474K	NM_000872.4	NP_000863.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	0					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAATCATGACCTTTTTTTCTA	0.328000													10	6					0	0	0.001855	0	0
BRPF1	7862	broad.mit.edu	37	3	9785916	9785916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:9785916C>T	ENST00000383829.2	+	9	3048	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	BRPF1_ENST00000457855.1_Missense_Mutation_p.P876S|BRPF1_ENST00000424362.1_Missense_Mutation_p.P875S|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Missense_Mutation_p.P876S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	876	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGGCCTGGGTCCCAACATGTC	0.562000													39	151					0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142280112	142280112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:142280112G>A	ENST00000350721.4	-	5	1443	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	ATR_ENST00000383101.3_Missense_Mutation_p.S441F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	441					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCTCTTTTAGAAGGGTTTAG	0.378000								Other conserved DNA damage response genes					14	54					0	0	0.002450	0	0
TKTL1	8277	broad.mit.edu	37	X	153556204	153556204	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:153556204C>T	ENST00000369915.3	+	12	1707	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	TKTL1_ENST00000217905.7_Silent_p.I246I|TKTL1_ENST00000369912.2_Silent_p.I450I|TKTL1_ENST00000482044.1_3'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	506					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGTGTCATCGACCTGTTTA	0.453000													108	98					0	0	0.003610	0	0
SLAMF6	114836	broad.mit.edu	37	1	160456516	160456516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:160456516G>A	ENST00000368059.3	-	8	1046	c.977C>T	c.(976-978)gCc>gTc	p.A326V	SLAMF6_ENST00000368057.3_Missense_Mutation_p.A327V|SLAMF6_ENST00000368055.1_Missense_Mutation_p.A216V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	327						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATTGTCAAGGGCAGTTGCCCT	0.473000													10	20					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126412679	126412679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:126412679G>A	ENST00000394329.3	+	17	14715	c.14702G>A	c.(14701-14703)gGa>gAa	p.G4901E	FAT4_ENST00000335110.5_Missense_Mutation_p.G3142E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4901					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCGAGGGAGGACCTGTGGGC	0.537000													19	23					0	0	0.001882	0	0
ANKRD17	26057	broad.mit.edu	37	4	73944492	73944492	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:73944492G>A	ENST00000358602.4	-	31	7391	c.7275C>T	c.(7273-7275)gtC>gtT	p.V2425V	ANKRD17_ENST00000330838.6_Silent_p.V2174V|ANKRD17_ENST00000509867.2_Silent_p.V2312V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2425					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAATAGGGACTGGAACTT	0.502000													14	19					0	0	0.001855	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607089	131607089	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:131607089C>T	ENST00000253754.3	+	5	664	c.600C>T	c.(598-600)ccC>ccT	p.P200P	PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Silent_p.P200P	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	200							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGAGCCCGTGGCCGCGG	0.701000													13	12					0	0	0.003163	0	0
NOX4	50507	broad.mit.edu	37	11	89135701	89135701	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:89135701C>T	ENST00000535633.1	-	9	877	c.567G>A	c.(565-567)ctG>ctA	p.L189L	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.L189L|NOX4_ENST00000413594.2_Silent_p.L234L|NOX4_ENST00000532825.1_Silent_p.L189L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Silent_p.L188L|NOX4_ENST00000424319.1_Silent_p.L189L|NOX4_ENST00000542487.1_Silent_p.L189L|NOX4_ENST00000527626.1_Silent_p.L47L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Silent_p.L213L|NOX4_ENST00000343727.5_Silent_p.L189L|NOX4_ENST00000534731.1_Silent_p.L213L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	213	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTTGATACTTCAGCAGCCCTC	0.358000													10	19					0	0	0.006214	0	0
MACF1	23499	broad.mit.edu	37	1	39801408	39801408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:39801408C>T	ENST00000564288.1	+	37	9925	c.9148C>T	c.(9148-9150)Cct>Tct	p.P3050S	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P3055S|MACF1_ENST00000567887.1_Missense_Mutation_p.P3087S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1490S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3055					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAGTGGTACCTCAAGGAAT	0.358000													6	28					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9088812	9088812	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9088812G>A	ENST00000397910.4	-	1	3206	c.3003C>T	c.(3001-3003)ttC>ttT	p.F1001F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1001	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAGAAGTGAATTTAGAGA	0.478000													30	107					0	0	0.001512	0	0
MIR520B	574473	broad.mit.edu	37	19	54204530	54204530	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:54204530C>T	ENST00000384989.1	+	0	50					NR_030195.1																						GAAAGTGCTTCCTTTTAGAGG	0.428000													16	6					0	0	0.007413	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888510	12888510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12888510C>T	ENST00000535591.1	-	2	209	c.14G>A	c.(13-15)aGc>aAc	p.S5N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	5										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCGTCTCCTGCTGAAGGCCTC	0.642000													47	42					0	0	0.003610	0	0
GRK1	6011	broad.mit.edu	37	13	114322232	114322232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:114322232G>A	ENST00000335678.6	+	1	763	c.531G>A	c.(529-531)tgG>tgA	p.W177*		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	177	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCCTGCAGTGGAAGTGGCTGG	0.652000													3	3					0	0	0.004672	0	0
GJB2	2706	broad.mit.edu	37	13	20763627	20763627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:20763627G>A	ENST00000382844.1	-	1	292	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GJB2_ENST00000382848.4_Missense_Mutation_p.R32C			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	32			R -> H (in DFNB1A).|R -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ATCATAATGCGAAAAATGAAG	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	58					0	0	0.007413	0	0
PENK	5179	broad.mit.edu	37	8	57354305	57354305	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:57354305G>A	ENST00000314922.3	-	2	406	c.330C>T	c.(328-330)ttC>ttT	p.F110F	PENK_ENST00000451791.2_Silent_p.F110F|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	110					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCTTCATGAAGCCTCCAT	0.488000													71	50					0	0	0.003610	0	0
FLNB	2317	broad.mit.edu	37	3	58134480	58134480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:58134480G>A	ENST00000357272.4	+	36	6157	c.5992G>A	c.(5992-5994)Gag>Aag	p.E1998K	FLNB_ENST00000493452.1_Missense_Mutation_p.E1805K|FLNB_ENST00000490882.1_Missense_Mutation_p.E2029K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1998K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1987K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1818K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1998K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1974K			O75369	FLNB_HUMAN	filamin B, beta	1998	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTCCAGTCGGAGATTGGTGA	0.577000													10	40					0	0	0.006214	0	0
OR6F1	343169	broad.mit.edu	37	1	247875253	247875253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247875253C>T	ENST00000302084.2	-	1	852	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATCAGATCCAAGGCATCT	0.488000													24	24					0	0	0.004656	0	0
KNDC1	85442	broad.mit.edu	37	10	135015303	135015303	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:135015303C>T	ENST00000304613.3	+	17	3309	c.3288C>T	c.(3286-3288)gcC>gcT	p.A1096A	KNDC1_ENST00000368571.2_Silent_p.A1031A|KNDC1_ENST00000368572.2_Silent_p.A1098A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1096					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGTGCAGCGCCTTCTACGAGG	0.721000													4	5					0	0	0.001168	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025188	10025188	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:10025188C>T	ENST00000378380.3	+	4	1022	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.F231F|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAGGCTTTTTCGATGTAATAA	0.358000													47	69					0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786241	121786241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:121786241C>T	ENST00000261367.7	+	12	3268	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P614S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P125S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P201S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P507S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P169S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P567S|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	567				E -> G (in Ref. 6; AAH40552).	cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACCATCCTCACCTGCCTCCAG	0.438000													21	91					0	0	0.002780	0	0
ATP13A2	23400	broad.mit.edu	37	1	17326935	17326935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:17326935G>A	ENST00000452699.1	-	9	974	c.785C>T	c.(784-786)tCc>tTc	p.S262F	ATP13A2_ENST00000326735.8_Missense_Mutation_p.S267F|ATP13A2_ENST00000341676.5_Missense_Mutation_p.S262F|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	267					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGAGATGGAGGAAATGAGGAA	0.607000													17	10					0	0	0.004990	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:100200661G>A	ENST00000209668.2	-	8	1138	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000													22	21					0	0	0.002780	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G|ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000													10	17					0	0	0.000978	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943162	35943162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:35943162C>T	ENST00000490799.1	-	10	1630	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G426E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G321E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	426					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTTGTCTTCCTCCAGATTT	0.333000													15	3					0	0	0.004007	0	0
VILL	50853	broad.mit.edu	37	3	38048183	38048183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:38048183C>T	ENST00000283713.6	+	19	2715	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	VILL_ENST00000465644.1_Missense_Mutation_p.R535C|VILL_ENST00000383759.2_Missense_Mutation_p.R817C			O15195	VILL_HUMAN	villin-like	817	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGACCCTGCCCGCAGGGAGGT	0.672000													25	17					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179433237	179433237	+	Silent	SNP	A	A	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:179433237A>G	ENST00000589042.1	-	326	77846	c.77622T>C	c.(77620-77622)aaT>aaC	p.N25874N	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.N17001N|TTN_ENST00000460472.2_Silent_p.N16809N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.N24233N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.N23306N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N16934N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24233	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCAACAACATTGGCAACTG	0.398000													13	25					0	0	0.001855	0	0
JAK3	3718	broad.mit.edu	37	19	17943638	17943638	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:17943638G>A	ENST00000458235.1	-	18	2550	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	JAK3_ENST00000534444.1_Silent_p.F817F|JAK3_ENST00000527670.1_Silent_p.F817F	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	817					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GTCTCTCCTCGAAGATCGTGG	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								90	59					0	0	0.003610	0	0
TMC6	11322	broad.mit.edu	37	17	76115085	76115085	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:76115085G>A	ENST00000590602.1	-	15	2013	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	TMC6_ENST00000392467.3_Silent_p.I618I|TMC6_ENST00000591436.1_Silent_p.I197I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.I197I|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.I618I			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	618						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCTTGATGATCTGCACGG	0.682000													4	11					0	0	0.000602	0	0
PCDH18	54510	broad.mit.edu	37	4	138451032	138451032	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:138451032C>T	ENST00000344876.4	-	1	2597	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.R517R|PCDH18_ENST00000412923.2_Silent_p.R737R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	737					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTCGGCCACCCTGCAGTTAT	0.478000													22	24					0	0	0.002299	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834922	24834922	+	Missense_Mutation	SNP	C	C	T	rs141030064		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:24834922C>T	ENST00000376454.3	+	21	5531	c.5501C>T	c.(5500-5502)tCg>tTg	p.S1834L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1265L|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1240L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1155L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1834	Ser-rich.				embryonic skeletal system development	cytoplasm		p.S1834L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAAACCATCGATTGCTTCT	0.517000													39	32					0	0	0.006999	0	0
RBL2	5934	broad.mit.edu	37	16	53496484	53496484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:53496484C>T	ENST00000262133.6	+	11	1614	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R277C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	493	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAAACATTTTCGTTTTGCGGA	0.338000													119	36					0	0	0.003610	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907498	12907498	+	Silent	SNP	C	C	T	rs6702440		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:12907498C>T	ENST00000317869.6	-	2	870	c.645G>A	c.(643-645)gtG>gtA	p.V215V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TAGCATTTTTCACCTCTACCT	0.448000													38	29					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:51780227G>A	ENST00000251076.5	-	22	5428	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	DMXL2_ENST00000543779.2_Missense_Mutation_p.S1714F|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1078F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1714						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCAAGTAAGGAAAAAGCATT	0.373000													95	61					0	0	0.003610	0	0
TMEM51	55092	broad.mit.edu	37	1	15546025	15546025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:15546025C>T	ENST00000428417.1	+	3	994	c.548C>T	c.(547-549)cCt>cTt	p.P183L	TMEM51_ENST00000400796.3_Missense_Mutation_p.P183L|TMEM51_ENST00000376008.2_Missense_Mutation_p.P183L|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.P183L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	183						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GAGGCCAGCCCTGGGAACCCC	0.552000													17	46					0	0	0.001216	0	0
ANO4	121601	broad.mit.edu	37	12	101413904	101413904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr12:101413904G>A	ENST00000392979.3	+	8	1083	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G276E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	276						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATGAAGAAGGAAAAAACAAG	0.318000										HNSCC(74;0.22)			11	5					0	0	0.000673	0	0
CCDC33	80125	broad.mit.edu	37	15	74627439	74627439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:74627439C>T	ENST00000268082.4	+	9	1050	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Missense_Mutation_p.P310S|CCDC33_ENST00000321288.5_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	203							protein binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGAGTGACCCCCCTGGAGT	0.587000													66	31					0	0	0.003610	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784165	140784165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:140784165G>A	ENST00000573521.1	+	1	1646	c.1646G>A	c.(1645-1647)aGa>aAa	p.R549K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCATTGAGACTGTTTGTT	0.517000													76	48					0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35084645	35084645	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:35084645G>A	ENST00000382002.5	-	5	726	c.300C>T	c.(298-300)atC>atT	p.I100I	PRLR_ENST00000397391.3_Silent_p.I29I|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000310101.5_Silent_p.I100I|PRLR_ENST00000513753.1_Silent_p.I100I|PRLR_ENST00000348262.3_Silent_p.I100I|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Silent_p.I100I|PRLR_ENST00000231423.3_Silent_p.I100I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	100	Fibronectin type-III 1.		I -> V (in dbSNP:rs2228482).		activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGACCATCATGATGTATGTCC	0.493000													42	85					0	0	0.002522	0	0
NCOA3	8202	broad.mit.edu	37	20	46256463	46256463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr20:46256463C>T	ENST00000372004.3	+	7	907	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.Q231*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.Q231*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.Q231*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	231					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCTGTCTCAGCCACGAGC	0.423000													23	60					0	0	0.003330	0	0
ZNF638	27332	broad.mit.edu	37	2	71577112	71577112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:71577112C>T	ENST00000409544.1	+	2	1658	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF638_ENST00000377802.2_Missense_Mutation_p.S343L|ZNF638_ENST00000264447.4_Missense_Mutation_p.S343L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.S343L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	343					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATTAATTTCATCTGTAAGC	0.408000													30	43					0	0	0.001512	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													5	15					0	0	0.001168	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023421	193023421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:193023421C>T	ENST00000342358.4	-	23	2722	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	869					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCCTGCTCTGATAATGAA	0.458000													47	28					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123554567	123554567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:123554567G>A	ENST00000422452.2	-	25	4639	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R1519C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGATGGTACGAATTCGAACA	0.483000													31	34					0	0	0.002096	0	0
SORL1	6653	broad.mit.edu	37	11	121416090	121416090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:121416090G>A	ENST00000260197.7	+	14	2132	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	668					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTTTGACAGGCCGGTGGTC	0.537000													6	20					0	0	0.001984	0	0
ITK	3702	broad.mit.edu	37	5	156644894	156644894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:156644894C>T	ENST00000422843.3	+	5	624	c.472C>T	c.(472-474)Cct>Tct	p.P158S	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	158					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGCCTCTTCCTCCTACTCC	0.502000			T	SYK	peripheral T-cell lymphoma								137	107					0	0	0.003610	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013068	107013068	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:107013068C>T	ENST00000390625.2	-	0	306																											TGTTGTCCCACCATAAGCTTT	0.493000													25	61					0	0	0.004656	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292011	89292011	+	RNA	SNP	C	C	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:89292011C>A	ENST00000495489.1	-	0	314																											AAATCTGTCCCAGATCCACTG	0.478000													39	77					4.92203e-23	6.32565e-23	0.006230	1	0
NPTX1	4884	broad.mit.edu	37	17	78449913	78449913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:78449913C>T	ENST00000306773.4	-	1	491	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	112					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TTGCCCGAGCCGGGCTGCTTg	0.716000													62	30					0	0	0.003610	0	0
TMEM225	338661	broad.mit.edu	37	11	123755222	123755222	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:123755222G>A	ENST00000375026.2	-	2	519	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	101						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGATGGTAGTGAAGAGTTGTA	0.428000													4	1					0	0	0.000248	0	0
NDUFS5	4725	broad.mit.edu	37	1	39500128	39500128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:39500128C>T	ENST00000372969.3	+	3	368	c.281C>T	c.(280-282)cCt>cTt	p.P94L	NDUFS5_ENST00000372967.3_Missense_Mutation_p.P94L	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	94					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	AAGTACACCCCTCCACCTCAC	0.512000													10	26					0	0	0.000673	0	0
FAM115A	9747	broad.mit.edu	37	7	143573547	143573547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:143573547G>A	ENST00000479870.1	-	2	363	c.155C>T	c.(154-156)tCc>tTc	p.S52F	FAM115A_ENST00000355951.2_Missense_Mutation_p.S52F|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	52										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GCCATAGGAGGAGGCAGCAAT	0.562000													29	23					0	0	0.001512	0	0
TBPL2	387332	broad.mit.edu	37	14	55902652	55902652	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr14:55902652C>T	ENST00000247219.5	-	3	679	c.608_splice	c.e3-1	p.Q203_splice		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	203					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						AAACTATATTCCTGAAGAAAT	0.299000													25	26					0	0	0.006320	0	0
NDRG1	10397	broad.mit.edu	37	8	134274295	134274295	+	Silent	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:134274295G>A	ENST00000414097.2	-	5	1188	c.321C>T	c.(319-321)ccC>ccT	p.P107P	NDRG1_ENST00000537882.1_Silent_p.P26P|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Silent_p.P107P|NDRG1_ENST00000522476.1_Silent_p.P41P|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000354944.5_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	107					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCACCCTGCGGGGAAGGAGG	0.582000			T	ERG	prostate								50	22					0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82836398	82836398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:82836398G>A	ENST00000265077.3	+	8	8141	c.7576G>A	c.(7576-7578)Gaa>Aaa	p.E2526K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1539K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2526	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCGTTTCAGGGAATTCGAGGA	0.403000													8	12					0	0	0.003080	0	0
POLL	27343	broad.mit.edu	37	10	103340065	103340065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr10:103340065G>A	ENST00000370162.3	-	8	1797	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S	POLL_ENST00000370172.1_Missense_Mutation_p.P347S|POLL_ENST00000299206.4_Missense_Mutation_p.P435S|DPCD_ENST00000470165.1_3'UTR|POLL_ENST00000370158.3_Missense_Mutation_p.P160S|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.P172S|DPCD_ENST00000416979.2_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.P435S|POLL_ENST00000339310.3_Missense_Mutation_p.P158S|POLL_ENST00000370168.3_Missense_Mutation_p.P108S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	435					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CGGCCATCTGGGTGAGTGATG	0.592000								DNA polymerases (catalytic subunits)					4	46					0	0	0.000248	0	0
TPTE2P1	646405	broad.mit.edu	37	13	25525607	25525607	+	RNA	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr13:25525607C>T	ENST00000429698.1	-	0	301																											TTATCCAATTCATTTCTTGGT	0.363000													3	3					0	0	0.000248	0	0
MAPK15	225689	broad.mit.edu	37	8	144804000	144804000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr8:144804000C>T	ENST00000338033.4	+	13	1527	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	470					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCCCTGATCCGGGGTGACTG	0.687000													29	19					0	0	0.001786	0	0
MXRA5	25878	broad.mit.edu	37	X	3239627	3239627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:3239627C>T	ENST00000217939.6	-	5	4253	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1367						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGATTCTTCCTTAAATTCT	0.468000													17	10					0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585473	82585473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:82585473C>T	ENST00000423517.2	-	5	5133	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1599E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1530					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCCTTTTCCCTTTGTTTC	0.428000													102	53					0	0	0.003610	0	0
OR4A16	81327	broad.mit.edu	37	11	55111342	55111342	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:55111342C>T	ENST00000314721.2	+	1	716	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F222F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCCTAAACTTCCTTAAAACTT	0.423000													7	18					0	0	0.003080	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443232	1443232	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr5:1443232C>T	ENST00000270349.9	-	2	208	c.81G>A	c.(79-81)aaG>aaA	p.K27K	SLC6A3_ENST00000453492.2_Silent_p.K27K	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	27					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTCCACCTCCTTCGGGCCCA	0.637000													61	51					0	0	0.003610	0	0
GCNT1	2650	broad.mit.edu	37	9	79117361	79117361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:79117361C>T	ENST00000442371.1	+	3	1003	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	GCNT1_ENST00000376730.4_Missense_Mutation_p.L22F|GCNT1_ENST00000536223.1_Missense_Mutation_p.L22F|GCNT1_ENST00000444201.2_Missense_Mutation_p.L22F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	22					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTTTATGGTTCTTGTTTTATC	0.408000													30	14					0	0	0.002445	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351359	40351359	+	Silent	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:40351359C>T	ENST00000310169.2	+	4	965	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	276					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGTGACCATCCTGTTGGCCAT	0.512000													64	53					0	0	0.003610	0	0
GPR83	10888	broad.mit.edu	37	11	94113596	94113596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr11:94113596G>A	ENST00000243673.2	-	4	1162	c.991C>T	c.(991-993)Cac>Tac	p.H331Y	GPR83_ENST00000539203.2_Missense_Mutation_p.H289Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	331						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAACCAGTGGAAGGCAAAG	0.522000													19	42					0	0	0.001523	0	0
ATG16L1	55054	broad.mit.edu	37	2	234178648	234178648	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:234178648G>A	ENST00000392017.4	+	6	899	c.641_splice	c.e6-1	p.R214_splice	ATG16L1_ENST00000392018.1_Splice_Site_p.R214_splice|ATG16L1_ENST00000392020.4_Splice_Site_p.R214_splice|ATG16L1_ENST00000373525.5_Splice_Site_p.R70_splice|ATG16L1_ENST00000347464.5_Splice_Site_p.R70_splice|ATG16L1_ENST00000498620.1_3'UTR	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	214					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCCCAACAGGAGGCGGCAAG	0.438000													16	49					0	0	0.001523	0	0
GCSAML	148823	broad.mit.edu	37	1	247737515	247737515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:247737515C>T	ENST00000366491.2	+	7	676	c.179C>T	c.(178-180)tCc>tTc	p.S60F	GCSAML_ENST00000366489.1_Missense_Mutation_p.S60F|GCSAML_ENST00000527541.1_Missense_Mutation_p.S48F|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.S48F|GCSAML_ENST00000536561.1_Missense_Mutation_p.S60F|GCSAML_ENST00000527084.1_Missense_Mutation_p.S48F|GCSAML_ENST00000366488.4_Missense_Mutation_p.S80F					germinal center-associated, signaling and motility-like																		CATCAGAGATCCTCCCTGAGC	0.443000													14	40					0	0	0.001855	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249233	20249233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:20249233C>T	ENST00000375116.3	-	2	113	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	19					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGTTCCCGGTGACCAG	0.592000													9	40					0	0	0.000673	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675880	167675880	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:167675880C>T	ENST00000357154.3	-	9	856	c.718_splice	c.e9-1	p.R240_splice	SPOCK3_ENST00000541637.1_Splice_Site_p.R142_splice|SPOCK3_ENST00000541354.1_Splice_Site_p.R120_splice|SPOCK3_ENST00000421836.2_Splice_Site_p.R189_splice|SPOCK3_ENST00000502330.1_Splice_Site_p.R240_splice|SPOCK3_ENST00000534949.1_Splice_Site_p.R144_splice|SPOCK3_ENST00000510741.1_Splice_Site_p.G197_splice|SPOCK3_ENST00000511269.1_Splice_Site_p.R237_splice|SPOCK3_ENST00000357545.4_Splice_Site_p.R237_splice|SPOCK3_ENST00000512648.1_Splice_Site_p.R237_splice|SPOCK3_ENST00000512681.1_Splice_Site_p.R142_splice|SPOCK3_ENST00000506886.1_Splice_Site_p.R240_splice|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Splice_Site_p.R240_splice|SPOCK3_ENST00000504953.1_Splice_Site_p.R237_splice|SPOCK3_ENST00000535728.1_Splice_Site_p.G108_splice	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	240					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GGTATCGAATCCTAAAGGCAA	0.383000													9	14					0	0	0.004482	0	0
COLQ	8292	broad.mit.edu	37	3	15516452	15516452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr3:15516452G>A	ENST00000383785.2	-	8	660	c.535C>T	c.(535-537)Cct>Tct	p.P179S	COLQ_ENST00000435459.2_Missense_Mutation_p.P169S|COLQ_ENST00000383788.5_Missense_Mutation_p.P179S|COLQ_ENST00000383781.4_Missense_Mutation_p.P169S|COLQ_ENST00000603808.1_Missense_Mutation_p.P179S|COLQ_ENST00000383786.5_Missense_Mutation_p.P145S|COLQ_ENST00000383787.2_Missense_Mutation_p.P170S			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	179	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTGGATCCAGGGTAGCCCTAA	0.483000													15	94					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9072844	9072844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:9072844C>T	ENST00000397910.4	-	3	14805	c.14602G>A	c.(14602-14604)Gaa>Aaa	p.E4868K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4870	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGTCTTCCATGGTGGAG	0.463000													58	44					0	0	0.003610	0	0
ZNF525	170958	broad.mit.edu	37	19	53884868	53884868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:53884868C>T	ENST00000467003.1	+	4	1129	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R346C|ZNF525_ENST00000355326.3_Missense_Mutation_p.R64C					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TGCATGCCATCGTAGCATTCA	0.393000													11	10					0	0	0.000978	0	0
PCYT1B	9468	broad.mit.edu	37	X	24637202	24637202	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:24637202C>T	ENST00000379145.1	-	2	108		c.e2-1		PCYT1B_ENST00000356768.4_Splice_Site|PCYT1B_ENST00000379144.2_Splice_Site	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta							endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAGTCAGGGTCTAGAAGGGAG	0.463000													7	21					0	0	0.004482	0	0
LIG3	3980	broad.mit.edu	37	17	33310059	33310059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:33310059C>T	ENST00000378526.4	+	2	168	c.35C>T	c.(34-36)aCc>aTc	p.T12I	LIG3_ENST00000262327.5_Missense_Mutation_p.T12I|LIG3_ENST00000586407.1_Intron	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	12					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTTCCACAAACCCTCCGTGCA	0.413000								Other BER factors					41	8					0	0	0.002522	0	0
ANKRD17	26057	broad.mit.edu	37	4	74019668	74019668	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr4:74019668T>C	ENST00000358602.4	-	6	1279	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E388G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E275G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	388					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCCCATTTTCTAGCAGCAA	0.408000													36	34					0	0	0.006999	0	0
T	6862	broad.mit.edu	37	6	166580940	166580940	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr6:166580940T>A	ENST00000296946.2	-	2	608	c.140A>T	c.(139-141)gAg>gTg	p.E47V	T_ENST00000366871.3_Missense_Mutation_p.E47V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	47					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCGCTCTCCTCCAGGCCCAC	0.682000									Chordoma, Familial Clustering of				18	3					0	0	0.001882	0	0
ATP2B4	493	broad.mit.edu	37	1	203690437	203690437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:203690437C>T	ENST00000357681.5	+	17	3834	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.P892L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P904L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P904L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P904L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	904					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGCGGCGCCCCTATGGCCGA	0.488000													13	42					0	0	0.001368	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745023	33745023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr2:33745023C>T	ENST00000403687.3	+	5	918	c.178C>T	c.(178-180)Cga>Tga	p.R60*	RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.R60*|RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.R60*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTTTACGTATCGAAATGCCAC	0.373000													7	5					0	0	0.004482	0	0
RABEP2	79874	broad.mit.edu	37	16	28916731	28916731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr16:28916731G>A	ENST00000358201.4	-	12	2183	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	RABEP2_ENST00000544477.1_Missense_Mutation_p.S461F|RABEP2_ENST00000357573.6_Missense_Mutation_p.S496F	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	532					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CAGGGCCTGGGACAGTCGCAC	0.647000													15	7					0	0	0.004990	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661245	50661245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr1:50661245G>A	ENST00000371824.1	+	5	778	c.521G>A	c.(520-522)gGg>gAg	p.G174E	ELAVL4_ENST00000371827.1_Missense_Mutation_p.G174E|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G179E|ELAVL4_ENST00000357083.4_Missense_Mutation_p.G191E|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G174E|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G177E|ELAVL4_ENST00000371819.1_Missense_Mutation_p.G179E			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	174	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTGTCCAGAGGGGTGGGATTC	0.498000													17	44					0	0	0.001216	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280658	105280658	+	Missense_Mutation	SNP	C	C	T	rs148370308		TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chrX:105280658C>T	ENST00000327674.4	-	1	727	c.392G>A	c.(391-393)gGa>gAa	p.G131E	SERPINA7_ENST00000372563.1_Missense_Mutation_p.G131E			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	131					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAGGGCATTTCCTATCTGCAA	0.443000													11	31					0	0	0.000673	0	0
TMEM140	55281	broad.mit.edu	37	7	134849432	134849433	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr7:134849432_134849433insG	ENST00000275767.2	+	2	462_463	c.239_240insG	c.(238-240)cggfs	p.R80fs	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	80						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CGGGTTGGCCTGGGCCTGGCCA	0.624													22	103	---	---	---	---					
PPP1R26	9858	broad.mit.edu	37	9	138379510	138379511	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr9:138379510_138379511insG	ENST00000356818.2	+	4	3703_3704	c.3154_3155insG	c.(3154-3156)gggfs	p.G1052fs	PPP1R26_ENST00000401470.3_Frame_Shift_Ins_p.G1052fs|PPP1R26_ENST00000605660.1_Frame_Shift_Ins_p.G1052fs|PPP1R26_ENST00000605286.1_Frame_Shift_Ins_p.G1052fs|PPP1R26_ENST00000604351.1_Frame_Shift_Ins_p.G1052fs|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	1052						nucleolus	protein binding										TGCAGTGTGGAGGGGGGGCGTC	0.738													2	4	---	---	---	---					
ZSCAN29	146050	broad.mit.edu	37	15	43653379	43653380	+	In_Frame_Ins	INS	-	-	TAT			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr15:43653379_43653380insTAT	ENST00000396976.2	-	5	2584_2585	c.2450_2451insATA	c.(2449-2451)cta>cATAta	p.817_817L>HI	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_In_Frame_Ins_p.427_427L>HI|ZSCAN29_ENST00000396972.1_In_Frame_Ins_p.428_428L>HI	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	817					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACACCCATAGGGTTTCTCTCC	0.480													21	70	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29560024	29560034	+	Frame_Shift_Del	DEL	AGGTTACCACA	AGGTTACCACA	-			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr17:29560024_29560034delAGGTTACCACA	ENST00000358273.4	+	27	3884_3894	c.3501_3511delAGGTTACCACA	c.(3499-3513)ttagfs	p.LGYHK1167fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LGYHK1167fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1167					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGGCTTAGGTTACCACAAGGATCTCCA	0.389			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	8	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45252260	45252261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A3AE-06A-11D-A196-08	TCGA-EE-A3AE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1379ce-9fac-4b2d-abca-1552e1ffa6c3	e0e7f670-21d1-4eb5-a1d3-a05214dacd06	g.chr19:45252260_45252261insC	ENST00000164227.5	+	1	457_458	c.213_214insC	c.(211-216)ggccccfs	p.GP71fs	BCL3_ENST00000487394.1_3'UTR	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	71	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGGTCCCCGGGCCCCCCCACGG	0.787			T	IGH@	CLL								2	4	---	---	---	---